V79A (p.Val79Ala) variant of GJA5 (Gap junction alpha-5 protein)
V79A (p.Val79Ala) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
V79A (p.Val79Ala) variant details
- p.Val79Ala
- gnomAD 1-147759003-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.70
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Literature evidence available