V63V (p.Val63Val) variant of GJB6 (Gap junction beta-6 protein)
V63V (p.Val63Val) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V63V (p.Val63Val) variant details
- p.Val63Val
- rs2137333821
- gnomAD 13-20223292-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 3.90
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available