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rs121908026

Variant summary

Our verdict is Pathogenic. Variant got 20 ACMG points: 20P and 0B. PS1_ModeratePM1PM2PM5PP3_StrongPP5_Very_Strong

The NM_000527.5(LDLR):c.530C>T(p.Ser177Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000991 in 1,613,930 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely pathogenicin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S177P) has been classified as Likely pathogenic.

Frequency

Genomes: 𝑓 0.000039 ( 1 hom., cov: 33)
Exomes 𝑓: 0.0000068 ( 0 hom. )

Consequence

LDLR
NM_000527.5 missense

Scores

12
5
1

Clinical Significance

Pathogenic reviewed by expert panel P:24O:1

Conservation

PhyloP100: 4.87
Variant links:
Genes affected
LDLR (HGNC:6547): (low density lipoprotein receptor) The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]

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ACMG classification

Classification made for transcript

Verdict is Pathogenic. Variant got 20 ACMG points.

PS1
Transcript NM_000527.5 (LDLR) is affected with MISSENSE_VARIANT having same AA change as one Pathogenic present in UniProt
PM1
In a hotspot region, there are 10 aminoacids with missense pathogenic changes in the window of +-8 aminoacids around while only 1 benign, 7 uncertain in NM_000527.5
PM2
Very rare variant in population databases, with high coverage;
PM5
Other missense variant is known to change same aminoacid residue: Variant chr19-11105435-T-C is described in ClinVar as [Likely_pathogenic]. Clinvar id is 403631.Status of the report is criteria_provided_single_submitter, 1 stars.
PP3
MetaRNN computational evidence supports a deleterious effect, 0.961
PP5
Variant 19-11105436-C-T is Pathogenic according to our data. Variant chr19-11105436-C-T is described in ClinVar as [Pathogenic]. Clinvar id is 3686.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr19-11105436-C-T is described in Lovd as [Pathogenic]. Variant chr19-11105436-C-T is described in Lovd as [Likely_pathogenic]. Variant chr19-11105436-C-T is described in Lovd as [Pathogenic].

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
LDLRNM_000527.5 linkuse as main transcriptc.530C>T p.Ser177Leu missense_variant 4/18 ENST00000558518.6

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
LDLRENST00000558518.6 linkuse as main transcriptc.530C>T p.Ser177Leu missense_variant 4/181 NM_000527.5 P3P01130-1

Frequencies

GnomAD3 genomes
AF:
0.0000394
AC:
6
AN:
152202
Hom.:
1
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000196
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000147
Gnomad OTH
AF:
0.000956
GnomAD3 exomes
AF:
0.0000159
AC:
4
AN:
251308
Hom.:
0
AF XY:
0.0000294
AC XY:
4
AN XY:
135880
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.00
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.0000544
Gnomad SAS exome
AF:
0.0000653
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00000880
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
0.00000684
AC:
10
AN:
1461728
Hom.:
0
Cov.:
33
AF XY:
0.00000963
AC XY:
7
AN XY:
727172
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.0000224
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.0000348
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000450
Gnomad4 OTH exome
AF:
0.0000166
GnomAD4 genome
AF:
0.0000394
AC:
6
AN:
152202
Hom.:
1
Cov.:
33
AF XY:
0.0000404
AC XY:
3
AN XY:
74344
show subpopulations
Gnomad4 AFR
AF:
0.00
Gnomad4 AMR
AF:
0.000196
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000147
Gnomad4 OTH
AF:
0.000956
Bravo
AF:
0.0000529
ExAC
AF:
0.00000824
AC:
1

ClinVar

Significance: Pathogenic
Submissions summary: Pathogenic:24Other:1
Revision: reviewed by expert panel
LINK: link

Submissions by phenotype

Hypercholesterolemia, familial, 1 Pathogenic:15
Pathogenic, criteria provided, single submitterresearchCardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo JorgeMar 01, 20160/190 non-FH alleles, 0/32 normolipidemic individuals; 0/60 healthy control individuals -
Pathogenic, no assertion criteria providedresearchLaboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum-- -
Pathogenic, no assertion criteria providedliterature onlyOMIMFeb 01, 1993- -
Likely pathogenic, criteria provided, single submitterliterature onlyLDLR-LOVD, British Heart FoundationMar 25, 2016- -
Pathogenic, criteria provided, single submitterclinical testingAll of Us Research Program, National Institutes of HealthDec 18, 2023The c.530C>T (p.Ser177Leu) variant, also known as p.Ser156Leu in the LDLR gene, that encodes for low density lipoprotein receptor, has been identified in heterozygous, compound heterozygous or homozygous state in numerous individuals (>30) who fulfill the clinical criteria of familial hypercholesterolemia (FH) and segregated with disease in multiple families (PMID: 8096412, 15241806, 17765246, 18263977, 22698793, 25461735, 25487149, 25647241, 2760205, 31578082, 27816806, 28235710, 9654205, 20145306). This variant has been reported in compound heterozygosity with a truncating variant (p.Arg350*) which is classified as pathogenic by the ClinGen Variant Curation Expert Panel (ClinVar ID:226342), in an individual with severe FH (LDL-C: 19.7mmol/l) (PMID: 18263977). Experimental studies using transfected LDLR-deficient CHO cells (CHO-ldlA7), true homozygous patient fibroblasts and transfected HeLa-Kyoto cells revealed that this variant causes significantly reduced LDLR expression, LDL binding and internalization (PMID: 31578082, 2760205, 25647241). This variant lies in the well-established LDL binding domain (amino acids 105-232) critical for protein function (PMID: 2600087). In-silico computational prediction tools suggest that the p.Ser177Leu variant may have deleterious effect on the protein function (REVEL score: 0.886). This variant is found to be rare (4/251308; 0.001592%) in the gnomAD database. This variant is reported in ClinVar as pathogenic (ID: 3686) by multiple submitters (23) and reviewed by the expert panel. Therefore, the c.530C>T (p.Ser177Leu) variant in the LDLR gene is classified as pathogenic. -
Likely pathogenic, criteria provided, single submitterclinical testingMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and TransplantationNov 05, 2016- -
Pathogenic, criteria provided, single submitterresearchLaboratory of Genetics and Molecular Cardiology, University of São PauloMar 01, 2016- -
Likely pathogenic, criteria provided, single submitterclinical testingCentre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-FoixDec 16, 2016subjects mutated among 2600 FH index cases screened = 2 , family members = 3 with co-segregationFH-Puerto-Rico, 2% LDLR Activity / Software predictions: Damaging -
Pathogenic, criteria provided, single submitterclinical testingRevvity Omics, RevvityMay 08, 2020- -
Likely pathogenic, criteria provided, single submitterclinical testingRobarts Research Institute, Western University-- -
Pathogenic, criteria provided, single submitterclinical testingU4M - Lille University & CHRU Lille, Université de Lille - CHRU de LilleMar 30, 2017- -
Pathogenic, criteria provided, single submitterresearchFundacion Hipercolesterolemia FamiliarMar 01, 2016- -
Pathogenic, criteria provided, single submitterclinical testingFulgent Genetics, Fulgent GeneticsOct 31, 2018- -
Pathogenic, reviewed by expert panelcurationClinGen Familial Hypercholesterolemia Variant Curation Expert PanelJun 03, 2022NM_000527.5(LDLR): c.530C>T (p.Ser177Leu) variant is classified as Pathogenic for Familial Hypercholesterolemia by applying evidence codes (PS3, PS4, PM1, PM2, PM3, PP1_Strong, PP3, PP4 and BS4) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PS3 - PMID: 31578082 - Level 1 assay - Heterologous cells (CHO), FACS assays and CLSM: 65% cell surface LDLR, 10% binding and <2% uptake. PMID: 2760205 - Level 2 assay - Homozygous patient fibroblast, 125I-LDL assays: <2% LDLR activity. PMID: 25647241 - Level 3 assay - Heterologous cells (HeLa), CLSM assays: LDLR activity decreased compared to WT - considered as disruptive. PS4 - Variant meets PM2. Variant identified in 30 unrelated index cases (5 cases (2 with DLCN≥6; 3 with Simon-Broome possible) from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière); 1 case with Simon-Broome possible from GeneDx Inc.; 11 cases with Simon-Broome possible from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge; 13 cases with Simon-Broome possible/definite from Molecular Genetics Laboratory (Centre for Cardiovascular Surgery and Transplantation). PM1 - Variant meets PM2 and is missense in exon 4. PM2 - PopMax MAF = 0.00006533 (0.006533%) in South Asian exomes+genomes (gnomAD v2.1.1). PM3 - Patient 3 from PMID: 18263977 has LDL = 19.7 mmol/l and also LDLR p.Arg350* in trans - Pathogenic by these guidelines. Two true homozygotes (FHF23 and FHF57) published in PMID: 27816806 had LDL = 16.2 mmol/l and 22.6 mmol/l, respectively. PP1_Strong - Variant segregates with FH phenotype in 52 informative meiosis in 26 families from different labs (Laboratory of Genetics and Molecular Cardiology, University of São Paulo; Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière); Molecular Genetics Laboratory (Centre for Cardiovascular Surgery and Transplantation); Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge): 43 relatives tested positive had LDL-C >75th percentile + 9 relatives tested negative had LDL-C <50th percentile. PP3 - REVEL = 0.886. PP4 - Variant meets PM2. Variant identified in 30 unrelated index cases who fulfill clinical criteria for FH from several labs (see PS4 for details). BS4 - Variant does not segregate with phenotype in 14 informative meiosis from at least 6 families from different labs (Laboratory of Genetics and Molecular Cardiology, University of São Paulo; Molecular Genetics Laboratory (Centre for Cardiovascular Surgery and Transplantation); Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge): 13 relatives tested negative but had LDL-C >75th percentile + 1 relative tested positive but LDL-C <50th percentile. Variant has 3 Strong, 3 Moderate and 2 Supporting evidence codes towards Pathogenic, enough to classify as Pathogenic, and only 1 Strong evidence codes towards Benign. The Pathogenic criteria overwhelms the Benign criteria, so we are confident in classifying this variant as Pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingLaboratory for Molecular Medicine, Mass General Brigham Personalized MedicineSep 13, 2023The p.Ser177Leu variant in LDLR (also described as p.Ser156Leu in the literature) has been reported in several individuals with familial hypercholesterolemia (FH): In at least 15 in the heterozygous state (Schuster 1993 PMID: 8096412, Kuhrova 2002 PMID: 11754108, Bourbon 2008 PMID: 17765246, Tichy 2012 PMID: 22698793, Jannes 2015 PMID: 25461735, Thormaehlen 2015 PMID: 25647241, Sharifi 2016 PMID: 26892515), 1 with homozygous FH (Hobbs 1989 PMID: 2760205), and 2 in the compound heterozygous state (Jannes 2015 PMID: 25461735, Kubalska 2008 PMID: 18263977) and has also been reported by other clinical laboratories in ClinVar (Variation ID 3686). This variant segregated with disease in at least 9 affected relatives from 2 families (Hobbs 1992 PMID: 1301956, Schuster 1993 PMID: 8096412). However, not all family members that carried the variant presented with high cholesterol levels (Hobbs 1989 PMID: 2760205). This variant has also been identified in in 0.02% (3/15272) of Latino/Admixed American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v3.1.2). This frequency is low enough to be consistent with the frequency of FH in the general population. In vitro functional studies provide some evidence that the p.Ser177Leu variant may impact protein function (Hobbs 1989 PMID: 2760205, Kubalska 2008 PMID: 18263977, Thormaehlen 2015 PMID: 25647241) and computational prediction tools and conservation analysis are consistent with pathogenicity. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant FH. The ACMG/AMP Criteria applied: PS4, PP1_strong, PS3_supporting, PP3, PM2_Supporting. -
Familial hypercholesterolemia Pathogenic:5
Pathogenic, no assertion criteria providedclinical testingNatera, Inc.Jul 21, 2020- -
Pathogenic, criteria provided, single submitterclinical testingWomen's Health and Genetics/Laboratory Corporation of America, LabCorpJul 19, 2016Variant summary: The LDLR c.530C>T (p.Ser177Leu) variant involves the alteration of a conserved nucleotide. Ser177 is a highly conserved amino acid across species, and 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1/121078 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic LDLR variant (0.0012508). This variant has been reported in numerous patients heterozygously or homozygously. Functional studies showed this variant with defective maturation and LDL metabolism. Taken together, this variant is classified as pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingHuman Genome Sequencing Center Clinical Lab, Baylor College of MedicineAug 10, 2018This c.530C>T (p.Ser177Leu) variant in exon 4 of the LDLR gene results in an amino acid change at residue 177 of a serine to a leucine. This variant has been reported in multiple patients and families with familial hypercholesterolemia (PMID: 8096412, 9654205, 15199436, 15241806, 17765246, 22698793, 25487149) and is rarely observed in general population databases. Functional assays have also shown that this variant is disruptive (PMID: 25647241). Therefore, the c.530C>T (p.Ser177Leu) variant in the LDLR gene is classified as pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingColor Diagnostics, LLC DBA Color HealthJun 01, 2023This missense variant (also known as p.Ser156Leu in the mature protein and as FH Puerto Rico) replaces serine with leucine at codon 177 in the LDLR type A repeat 4 of the LDLR protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Experimental functional studies have shown that this variant causes a significant reduction in LDLR expression, binding, and uptake (PMID: 2760205, 25647241, 31578082). This LDLR variant has been reported in over 30 heterozygous individuals affected with familial hypercholesterolemia (PMID: 2760205, 15241806, 17765246, 22698793, 25647241, 2760205, 28235710, 30975109, 31578082, 34037665; Color internal data). This variant has also been observed in compound heterozygous state with a known pathogenic LDLR variant as well as in homozygosity in multiple individuals affected with severe homozygous familial hypercholesterolemia, a phenotype expected of having two deleterious LDLR variants (PMID: 18263977, 25461735, 2760205, 27816806). It has been shown that this variant segregates with disease in over 15 affected individuals across 2 large families (PMID: 2760205, 30975109). This variant has been identified in 4/251308 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingInvitaeJan 24, 2024This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 177 of the LDLR protein (p.Ser177Leu). This variant is present in population databases (rs121908026, gnomAD 0.006%). This missense change has been observed in individuals with familial hypercholesterolemia (PMID: 2760205, 15241806, 17765246, 22698793, 25487149, 25647241). ClinVar contains an entry for this variant (Variation ID: 3686). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDLR protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects LDLR function (PMID: 2760205, 25647241). For these reasons, this variant has been classified as Pathogenic. -
not provided Pathogenic:3Other:1
Pathogenic, criteria provided, single submitterclinical testingGeneDxMar 09, 2022Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate defective receptor transport and ligand binding (Hobbs et al., 1989; Hobbs et al., 1992; Li et al., 2004; Thormaehlen et al., 2015); Disrupts a negatively charged triplet, Ser-Asp-Glu, located at the carboxyl-terminal end of the LDL-receptor class A4 repeat domain that is critical for ligand binding (Schneider et al., 2003); This variant is associated with the following publications: (PMID: 25647241, 15199436, 25487149, 30592178, 31491741, 30512145, 30975109, 8096412, 8828982, 14512370, 2760205, 1301956, 9654205, 14508510, 7947594, 14993243, 15241806, 15556092, 15556093, 16627557, 17335829, 17539906, 17765246, 18263977, 18279815, 19026292, 20145306, 21310417, 22698793, 25461735, 26892515, 27816806, 31447099, 32041611, 32660911, 32331935, 33740630, 34037665) -
Pathogenic, criteria provided, single submitterclinical testingMayo Clinic Laboratories, Mayo ClinicAug 03, 2019PS3_moderate, PS4_moderate, PM1, PM2, PM3, PP1, PP3 -
Pathogenic, criteria provided, single submitterclinical testingQuest Diagnostics Nichols Institute San Juan CapistranoFeb 05, 2022The frequency of this variant in the general population, 0.000065 (2/30616 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in in individuals/families with familial hypercholesterolemia (PMIDs: 30592178 (2019), 22698793 (2012), 20145306 (2010), 17765246 (2008), 15241806 (2004), 9654205 (1998), 8096412 (1993), and 2760205 (1989)) as well as individuals who were homozygous or compound heterozygous with a second pathogenic LDLR variant (PMIDs: 27816806 (2016), 18263977 (2008), 9654205 (1998), and 2760205 (1989)). In addition, experimental studies have determined this variant results in reduced LDL binding (PMIDs: 25647241 (2015) and 1301956 (1992)). Based on the available information, this variant is classified as pathogenic. -
not provided, no classification providedin vitroDept. of Genetics and Pharmacogenomics, Merck Research Labs-- -
Cardiovascular phenotype Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingAmbry GeneticsMay 04, 2023The c.530C>T (p.S177L) alteration is located in exon 4 (coding exon 4) of the LDLR gene. This alteration results from a C to T substitution at nucleotide position 530, causing the serine (S) at amino acid position 177 to be replaced by a leucine (L). Based on data from gnomAD, the T allele has an overall frequency of 0.002% (4/251308) total alleles studied. The highest observed frequency was 0.007% (2/30616) of South Asian alleles. This variant (also described as legacy p.S156L and FH Puerto Rico) has been reported in multiple individuals of different ethnic origins with familial hypercholesterolemia, some of whom were homozygous for this alteration (Hobbs, 1989; Schuster, 1993; G&oacute;rski, 1998; Chmara, 2010; Setia, 2016; Banerjee, 2019). In at least two families, this alteration was described to segregate with the disease across multiple generations (Hobbs, 1989; Mohd Nor, 2019). This amino acid position is highly conserved in available vertebrate species. This alteration impacts a residue in the conserved cluster of acidic amino acids at the C-terminal end of LDLR class A repeat 4 (Jeon, 2005). Functional studies have revealed deficient protein maturation and ligand binding by this alteration (Hobbs, 1989; Thormaehlen, 2015; Banerjee, 2019). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
0.78
BayesDel_addAF
Pathogenic
0.42
D
BayesDel_noAF
Pathogenic
0.55
Cadd
Pathogenic
26
Dann
Uncertain
1.0
DEOGEN2
Pathogenic
0.91
D;.;.;.
Eigen
Pathogenic
0.69
Eigen_PC
Uncertain
0.54
FATHMM_MKL
Pathogenic
1.0
D
LIST_S2
Uncertain
0.96
D;D;D;D
M_CAP
Pathogenic
0.71
D
MetaRNN
Pathogenic
0.96
D;D;D;D
MetaSVM
Pathogenic
1.1
D
MutationAssessor
Pathogenic
3.3
M;.;.;M
MutationTaster
Benign
1.0
D;D;D;D;D;D;D
PrimateAI
Uncertain
0.54
T
PROVEAN
Pathogenic
-5.4
D;D;D;D
Sift
Uncertain
0.0010
D;D;D;D
Sift4G
Pathogenic
0.0010
D;D;D;D
Polyphen
1.0
D;.;.;.
Vest4
0.67
MutPred
0.72
Loss of disorder (P = 0.0252);Loss of disorder (P = 0.0252);.;Loss of disorder (P = 0.0252);
MVP
1.0
MPC
0.76
ClinPred
0.96
D
GERP RS
5.6
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.8
Varity_R
0.91
gMVP
0.99

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs121908026; hg19: chr19-11216112; API