V43V (p.Val43Val) variant of GJB6 (Gap junction beta-6 protein)
V43V (p.Val43Val) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V43V (p.Val43Val) variant details
- p.Val43Val
- rs368228976
- gnomAD 13-20223352-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 4.82
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available