V35V (p.Val35Val) variant of GJB1 (Gap junction beta-1 protein)
V35V (p.Val35Val) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V35V (p.Val35Val) variant details
- p.Val35Val
- gnomAD X-71223812-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 10.40
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available