V37A (p.Val37Ala) variant of GJB2 (Gap junction beta-2 protein)
V37A (p.Val37Ala) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- rs141774369
- ClinGen CA6904317
- cosmic curated COSV67010
- ClinVar RCV000520583
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.68
- MetaLR 0.95
- MetaSVM 1.04
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Likely pathogenic (in DFNB1A)
- UniProt: Likely pathogenic (in DFNB1A)
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)