V27V (p.Val27Val) variant of GJB1 (Gap junction beta-1 protein)
V27V (p.Val27Val) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V27V (p.Val27Val) variant details
- p.Val27Val
- rs1489844891
- gnomAD X-71223788-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 9.65
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available