rs140342925
Positions:
Variant summary
Our verdict is Pathogenic. Variant got 16 ACMG points: 16P and 0B. PM1PM2PM5PP3_ModeratePP5_Very_Strong
The NM_001048174.2(MUTYH):c.650G>A(p.Arg217His) variant causes a missense change. The variant allele was found at a frequency of 0.0000607 in 1,614,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R217C) has been classified as Pathogenic.
Frequency
Genomes: 𝑓 0.000085 ( 0 hom., cov: 33)
Exomes 𝑓: 0.000058 ( 0 hom. )
Consequence
MUTYH
NM_001048174.2 missense
NM_001048174.2 missense
Scores
15
3
1
Clinical Significance
Conservation
PhyloP100: 7.14
Genes affected
MUTYH (HGNC:7527): (mutY DNA glycosylase) This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Pathogenic. Variant got 16 ACMG points.
PM1
In a helix (size 10) in uniprot entity MUTYH_HUMAN there are 9 pathogenic changes around while only 0 benign (100%) in NM_001048174.2
PM2
Very rare variant in population databases, with high coverage;
PM5
Other missense variant is known to change same aminoacid residue: Variant chr1-45332446-G-A is described in Lovd as [Pathogenic].
PP3
MetaRNN computational evidence supports a deleterious effect, 0.889
PP5
Variant 1-45332445-C-T is Pathogenic according to our data. Variant chr1-45332445-C-T is described in ClinVar as [Likely_pathogenic]. Clinvar id is 140877.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr1-45332445-C-T is described in Lovd as [Pathogenic]. Variant chr1-45332445-C-T is described in Lovd as [Likely_pathogenic].
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MUTYH | NM_001128425.2 | c.734G>A | p.Arg245His | missense_variant | 9/16 | ENST00000710952.2 | NP_001121897.1 | |
| MUTYH | NM_001048174.2 | c.650G>A | p.Arg217His | missense_variant | 9/16 | ENST00000456914.7 | NP_001041639.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MUTYH | ENST00000710952.2 | c.734G>A | p.Arg245His | missense_variant | 9/16 | NM_001128425.2 | ENSP00000518552 | |||
| MUTYH | ENST00000456914.7 | c.650G>A | p.Arg217His | missense_variant | 9/16 | 1 | NM_001048174.2 | ENSP00000407590 | A1 |
Frequencies
GnomAD3 genomes 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 33
GnomAD3 genomes
AF:
AC:
13
AN:
152222
Hom.:
Cov.:
33
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD3 exomes AF: 0.0000839 AC: 21AN: 250298Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135546
GnomAD3 exomes
AF:
AC:
21
AN:
250298
Hom.:
AF XY:
AC XY:
12
AN XY:
135546
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.0000581 AC: 85AN: 1461786Hom.: 0 Cov.: 36 AF XY: 0.0000660 AC XY: 48AN XY: 727198
GnomAD4 exome
AF:
AC:
85
AN:
1461786
Hom.:
Cov.:
36
AF XY:
AC XY:
48
AN XY:
727198
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74354
GnomAD4 genome
AF:
AC:
13
AN:
152222
Hom.:
Cov.:
33
AF XY:
AC XY:
7
AN XY:
74354
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
ESP6500AA
AF:
AC:
0
ESP6500EA
AF:
AC:
1
ExAC
AF:
AC:
16
EpiCase
AF:
EpiControl
AF:
ClinVar
Significance: Pathogenic/Likely pathogenic
Submissions summary: Pathogenic:27Other:1
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
Familial adenomatous polyposis 2 Pathogenic:9Other:1
| Pathogenic, criteria provided, single submitter | clinical testing | Department of Molecular Diagnostics, Institute of Oncology Ljubljana | Apr 02, 2020 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 22, 2024 | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 245 of the MUTYH protein (p.Arg245His). This variant is present in population databases (rs140342925, gnomAD 0.03%). This missense change has been observed in individual(s) with familial adenomatous polyposis and colorectal cancer (PMID: 16134147, 16557584, 19732775, 23108399, 24444654, 26446593). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.692G>A (p.Arg231His). ClinVar contains an entry for this variant (Variation ID: 140877). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects MUTYH function (PMID: 17081686, 18534194, 23108399, 24569162, 25820570). For these reasons, this variant has been classified as Pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Apr 19, 2021 | - - |
| not provided, no classification provided | phenotyping only | GenomeConnect - Invitae Patient Insights Network | - | Variant interpreted as Pathogenic and reported on 11-25-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Centre for Mendelian Genomics, University Medical Centre Ljubljana | May 27, 2019 | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PM5,PP3. - |
| Likely pathogenic, criteria provided, single submitter | clinical testing | Counsyl | Mar 31, 2016 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Dec 11, 2019 | The p.Arg245His variant in MUTYH has been reported in 1 homozygous individual, 2 heterozygous individuals, and 10 compound heterozygous individuals with MUTYH-related tumors (Aceto 2005, Olschwang 2007, Russell 2006, Vogt 2009, Win 2014, Yurgelun 2015). It segregated with disease in 3 affected relatives from 2 families (Vogt 2009). It has also been identified in 0.03% (5/19802) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). This frequency is low enough to be consistent with the carrier frequency of MUTYH-related attenuated familial adenomatous polyposis (FAP) in the general population. This variant has been reported in ClinVar (Variation ID: 140877). Functional studies provide some evidence that the p.Arg245His variant has impaired function in vitro (Ali 2008, Ruggieri 2013, Grasso 2014, Komine 2015). In summary, this variant meets criteria to be classified as pathogenic for MUTYH-related attenuated FAP in an autosomal recessive manner. ACMG/AMP Criteria applied: PM3_VeryStrong, PP1_Strong, PS3_Moderate. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | Sep 07, 2017 | Variant summary: The MUTYH c.734G>A (p.Arg245His) variant causes a missense change involving the alteration of a conserved nucleotide located in the DNA glycosylase domain and the Helix-turn-helix, base-excision DNA repair, C-terminal domain of the protein (InterPro). 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). Functional assays showed the variant to be associated with defective glycosylase and DNA binding activity and concluded that this variant is functionally defective (Ali_2008, Komine_2015).The variant was found in the control population dataset of ExAC in 16/119648 control chromosomes at a frequency of 0.0001337, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUTYH variant (0.0045644). This variant has been reported in numerous MUTYH-associated polyposis patients, in both homozygotes and compound heterozygotes (Aceto_2005, Vogt_2009). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Baylor Genetics | Mar 25, 2024 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | All of Us Research Program, National Institutes of Health | Jan 08, 2024 | This missense variant replaces arginine with histidine at codon 245 of the MUTYH protein. This variant is also known by an alternative transcript, NM_001048171, as c.692G>A (p.Arg231His). A different variant affecting the same codon, c.733C>T (p.Arg245Cys), is considered to be disease-causing (ClinVar variation ID: 41761). Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies found this variant to be defective in glycosylase assays (PMID: 18534194, 23108399) and caused abnormal increase in DNA 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) and mutation frequency (PMID: 23108399, 24569162). This variant has been reported in multiple individuals who are heterozygous and homozygous carriers and affected with polyposis and colorectal cancer (PMID: 16134147,19394335, 19732775, 23108399, 25590978, 29406563, 29967336, 34704405). This variant has been identified in 24/281670 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. - |
not provided Pathogenic:7
| Pathogenic, criteria provided, single submitter | clinical testing | GeneDx | Jan 06, 2022 | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Arg231His; This variant is associated with the following publications: (PMID: 16134147, 16287072, 23108399, 24569162, 19732775, 24444654, 25980754, 26694661, 16557584, 28087410, 18534194, 25820570, 17949294, 16455870, 17081686, 26446593, 28551381, 27783336, 27870730, 27829682, 28152038, 26556299, 31159747, 30604180, 30564557, 29625052, 31263571, 29406563, 34426522, 31589614, 32338768, 30787465, 11801590) - |
| Pathogenic, criteria provided, single submitter | clinical testing | Quest Diagnostics Nichols Institute San Juan Capistrano | Nov 19, 2021 | The variant has been reported as homozygous or compound heterozygous in multiple individuals with MAP in the published literature (PMID: 23108399 (2013), 19732775 (2009), 16557584 (2006), 16134147 (2005)). Experimental studies indicate the variant is damaging to MUTYH protein function (PMID: 24569162 (2014), 23108399 (2013), 18534194 (2008)). Based on the available information, this variant is classified as pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Clinical Genetics and Genomics, Karolinska University Hospital | Mar 09, 2017 | - - |
| Likely pathogenic, criteria provided, single submitter | clinical testing | Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden | Nov 03, 2021 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2022 | MUTYH: PS3:Very Strong, PS4, PP3 - |
| Pathogenic, criteria provided, single submitter | clinical testing | Clinical Genetics Laboratory, Skane University Hospital Lund | May 27, 2022 | - - |
| Likely pathogenic, criteria provided, single submitter | clinical testing | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | Aug 15, 2023 | - - |
Hereditary cancer-predisposing syndrome Pathogenic:5
| Pathogenic, criteria provided, single submitter | curation | Sema4, Sema4 | May 19, 2021 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 08, 2021 | The p.R245H pathogenic mutation (also known as c.734G>A), located in coding exon 9 of the MUTYH gene, results from a G to A substitution at nucleotide position 734. The arginine at codon 245 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in both the homozygous and compound heterozygous state in multiple individuals with colon polyposis and/or colorectal cancer (Aceto G et al. Hum. Mut. 2005 Oct;26:394; Russell AM et al. Int. J. Cancer. 2006 Apr;118:1937-40; Piccioli P et al. Clin. Chem. 2006 Apr;52:739-43; Olschwang S et al. Genet. Test. 2007;11:315-20; Jones N et al. Gastroenterology. 2009 Aug;137:489-94, 494.e1; quiz 725-6; Vogt S et al. Gastroenterology. 2009 Dec;137:1975-85; Morak M et al. Clin Genet, 2010 Oct;78:353-63; Win AK et al. Gastroenterology. 2014 May;146:1208-11.e1-5; Papp J et al. Fam. Cancer. 2016 Jan;15:85-97; Kacerovska D et al. Am. J. Dermatopathol. 2016 Dec;38:915-92; Ricci MT et al. J Hum Genet, 2017 Feb;62:309-315; Viel A et al. EBioMedicine, 2017 Jun;20:39-49; Yanus GA et al. Clin. Genet. 2018 May;93:1015-1021; Sutcliffe EG et al. Fam Cancer, 2019 04;18:203-209; Staninova-Stojovska M et al. Balkan J Med Genet, 2019 Dec;22:5-16). Functional studies have shown that the p.R245H mutation, which exists in the highly conserved and catalytic domain of MUTYH, results in severely defective glycosylase activity, severely defective DNA binding activity, and protein expression levels roughly half of that compared to wild-type (Ali M et al. Gastroenterology. 2008 Aug;135:499–507; Komine K et al. Hum. Mutat. 2015 Jul;36:704-11). Of note, this alteration is also designated as p.R231H (c.692G>A) in published literature. Based on the available evidence to date, this alteration is classified as a pathogenic mutation. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Mar 20, 2023 | This missense variant replaces arginine with histidine at codon 245 of the MUTYH protein. This variant is also known by an alternative transcript, NM_001048171, as c.692G>A (p.Arg231His). A different variant affecting the same codon, c.733C>T (p.Arg245Cys), is considered to be disease-causing (ClinVar variation ID: 41761). Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies found this variant to be defective in glycosylase assays (PMID: 18534194, 23108399) and caused abnormal increase in DNA 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) and mutation frequency (PMID: 23108399, 24569162). This variant has been reported in multiple individuals who are heterozygous and homozygous carriers and affected with polyposis and colorectal cancer (PMID: 16134147,19394335, 19732775, 23108399, 25590978, 29406563, 29967336, 34704405). This variant has been identified in 24/281670 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. - |
| Likely pathogenic, criteria provided, single submitter | clinical testing | GeneKor MSA | Jan 01, 2020 | This variant is a missense mutation replacing Arginine with Histidine in the position 245 of the MUTYH protein. This particular Arginine is highly conserved and located in a functional domain of the protein (FeS cluster domain). However there is no significant physicochemical difference between Arginine and Histidine (Grantham Score 29). The aforementioned variant has been described in literature both in homozygosity and heterozygosity in patients with MUTYH-associated polyposis (PMID: 17949294 , PMID: 16287072, PMID: 16134147). Furthermore published functional studies have shown that the variant affects MUTYH protein functionality (PMID: 18534194, PMID: 23108399).This mutation is present at low frequency in population databases (rs140342925, 0.01%). The mutation database ClinVar contains an entry for this variant (Variation ID: 140877). - |
| Pathogenic, criteria provided, single submitter | clinical testing | Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. | Mar 12, 2024 | - - |
Breast carcinoma Pathogenic:2
| Likely pathogenic, no assertion criteria provided | clinical testing | Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences | Aug 21, 2021 | Invasive Breast Carcinoma EST= + PRO = - HER2 = - KI = 60-70% - |
| Likely pathogenic, criteria provided, single submitter | clinical testing | Institute of Human Genetics, University of Leipzig Medical Center | Jan 01, 2019 | - - |
Carcinoma of colon Pathogenic:1
| Pathogenic, no assertion criteria provided | clinical testing | Department of Pathology and Laboratory Medicine, Sinai Health System | - | The MUTYH p.Arg245His variant was identified in 15 (2 homozygous, remainder were compound heterozygous) of 3360 proband chromosomes (frequency: 0.004) from individuals or families with MUTYH-associated adenomatous polyposis, familial adenomatous polyposis, or Lynch syndrome and was present in 1 of 2440 control chromosomes (frequency: 0.0004) from healthy individuals (Ruggieri 2013, Vogt 2009, Aceto 2005, Russell 2006, Yanus 2018, Yurgelun 2015). The variant was also identified in dbSNP (ID: rs140342925) as "With Pathogenic allele", ClinVar (classified as pathogenic by Invitae, Ambry Genetics, GeneDx and three other submitters; and classified as likely pathogenic by three submitters), COGR, and UMD-LSDB (23x as causal variant; co-occurring with multiple pathogenic MUTYH mutations). The variant was not identified in Cosmic or MutDB. The variant was identified in control databases in 22 of 276400 chromosomes at a frequency of 0.00008 (Genome Aggregation Database Feb 27, 2017). The variant was identified in the following populations: East Asian in 5 of 18840 chromosomes (freq: 0.0003), Other in 1 of 6454 chromosomes (freq: 0.0002), European in 15 of 126098 chromosomes (freq: 0.0001), and African in 1 of 23930 chromosomes (freq: 0.00004), while the variant was not observed in the Ashkenazi Jewish, Finnish, Latino, or South Asian populations. The p.Arg245 residue is conserved across mammals and other organisms and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. Multiple studies have demonstrated that the p.Arg245His variant has functionally reduced or abolished DNA binding and glycosylase activity (Ali 2008, Komine 2015, Ruggieri 2013, Grasso 2014). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. - |
Neoplasm of stomach;C0206711:Pilomatrixoma;C3272841:Familial adenomatous polyposis 2 Pathogenic:1
| Pathogenic, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | May 18, 2017 | - - |
MUTYH-related disorder Pathogenic:1
| Pathogenic, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Nov 22, 2023 | The MUTYH c.734G>A variant is predicted to result in the amino acid substitution p.Arg245His. This variant has been reported in the homozygous and compound heterozygous state in multiple patients to be causative for autosomal recessive adenomatous polyposis coli (sometimes reported as c.692G>A; p.Arg231His in Aceto et al. 2005. PubMed ID: 16134147; Kacerovska et al. 2016. PubMed ID: 27870730; Vogt et al. 2009. PubMed ID: 19732775). Functional studies of the p.Arg245His variant demonstrate that it is deficient in enzymatic and DNA binding activities (Ali et al. 2008. PubMed ID: 18534194), and that it is associated with a statistically significant increase in spontaneous mutation frequency in both homozygous and monoallelic heterozygous lymphoblastoid cell lines derived from MUTYH-associated polyposis patients (Grasso et al. 2014. PubMed ID: 24569162). This variant is reported in 0.025% of alleles in individuals of East Asian descent in gnomAD and has been interpreted as likely pathogenic and pathogenic in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/140877/). This variant is interpreted as pathogenic. - |
Diffuse midline glioma, H3 K27-altered Pathogenic:1
| Pathogenic, criteria provided, single submitter | research | Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital | Feb 26, 2021 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Pathogenic
D
BayesDel_noAF
Pathogenic
CADD
Pathogenic
DANN
Pathogenic
DEOGEN2
Uncertain
.;.;.;.;.;D;.;.;.;T;.;T
Eigen
Pathogenic
Eigen_PC
Pathogenic
FATHMM_MKL
Pathogenic
D
LIST_S2
Pathogenic
.;D;.;D;D;D;D;D;D;D;D;D
M_CAP
Uncertain
D
MetaRNN
Pathogenic
D;D;D;D;D;D;D;D;D;D;D;D
MetaSVM
Pathogenic
D
MutationAssessor
Pathogenic
.;.;.;.;.;H;.;.;.;.;.;.
MutationTaster
Benign
D;D;D;D;D;D;D;D;D;D;D;D;D;D
PrimateAI
Uncertain
T
PROVEAN
Pathogenic
D;D;D;D;D;D;D;D;D;D;D;D
REVEL
Pathogenic
Sift
Pathogenic
D;D;D;D;D;D;D;D;D;D;D;D
Sift4G
Pathogenic
D;D;D;D;D;D;D;D;D;D;D;D
Polyphen
1.0
.;.;.;.;.;D;D;.;D;.;.;.
Vest4
MVP
MPC
0.60
ClinPred
D
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at