V79V (p.Val79Val) variant of GJA5 (Gap junction alpha-5 protein)
V79V (p.Val79Val) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
V79V (p.Val79Val) variant details
- p.Val79Val
- gnomAD 1-147759002-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 9.82
- Population evidence available
- Literature evidence available