A40V (p.Ala40Val) variant of GJB6 (Gap junction beta-6 protein)
A40V (p.Ala40Val) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant nonsyndromic hearing loss 3B; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs780320724
- ClinGen CA6904506
- ClinVar RCV000487477
- ClinVar RCV001856883
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 3B; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 3B; Autosomal reces)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00035)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)