V79L (p.Val79Leu) variant of GJA5 (Gap junction alpha-5 protein)
V79L (p.Val79Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
V79L (p.Val79Leu) variant details
- p.Val79Leu
- gnomAD 1-147759004-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- MetaLR 0.97
- MetaSVM 1.11
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Literature evidence available