V71V (p.Val71Val) variant of GJB6 (Gap junction beta-6 protein)
V71V (p.Val71Val) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
V71V (p.Val71Val) variant details
- p.Val71Val
- rs1183496095
- gnomAD 13-20223268-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 8.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available