V23V (p.Val23Val) variant of GJB1 (Gap junction beta-1 protein)
V23V (p.Val23Val) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V23V (p.Val23Val) variant details
- p.Val23Val
- rs780076535
- gnomAD X-71223776-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.46
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available