LRRC14B

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			106 clinvar	6 clinvar	1 clinvar	113
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	108	6	1	115

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080478.3	RefSeq	NP_001073947.1	2	MANE Select
ENST00000328278.4	Ensembl	ENSP00000327675.3	2	MANE Select
ENST00001134979.1	Ensembl	ENSP00000807107.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328278
Coding exons: 2
Length: 3843
Individuals with no LoFs: 124507
Homozygous LoFs: 0
Heterozygous LoFs: 159
Defined: 124666
p: 0.000638

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.124	306	312	0.980	0.0000212	3205
Missense (PolyPhen)		90	82.576	1.0899		1033
Synonymous	-0.0128	152	152	1.00	0.0000108	1167
Loss of Function	-0.374	13	11.6	1.12	7.03e-7	111

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00080	0.00071	rare
Latino/Admixed American	0.00056	0.00055	rare
Ashkenazi Jewish	0.0038	0.0034	notable
East Asian	0.00060	0.00056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00057	0.00053	rare
South Asian	0.00077	0.00075	rare
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium