V13V (p.Val13Val) variant of GJB2 (Gap junction beta-2 protein)
V13V (p.Val13Val) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V13V (p.Val13Val) variant details
- p.Val13Val
- rs1415433002
- gnomAD 13-20189543-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 5.91
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available