V27V (p.Val27Val) variant of GJB2 (Gap junction beta-2 protein)
V27V (p.Val27Val) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V27V (p.Val27Val) variant details
- p.Val27Val
- gnomAD 13-20189501-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 5.97
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available