V71A (p.Val71Ala) variant of GJB6 (Gap junction beta-6 protein)
V71A (p.Val71Ala) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hidrotic ectodermal dysplasia syndrome; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
V71A (p.Val71Ala) variant details
- p.Val71Ala
- rs200172266
- ClinGen CA6904492
- ClinVar RCV001110826
- ClinVar RCV001563386
- Conflicting interpretations
- Hidrotic ectodermal dysplasia syndrome; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hidrotic ectodermal dysplasia syndrome; Autosomal recessive nons)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)