V63M (p.Val63Met) variant of GJB2 (Gap junction beta-2 protein)
V63M (p.Val63Met) 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 not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- rs370696868
- ClinGen CA222244
- cosmic curated COSV67010
- ClinVar RCV000080367
- Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.88
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)