V87A (p.Val87Ala) variant of GJA1 (Gap junction alpha-1 protein)
V87A (p.Val87Ala) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V87A (p.Val87Ala) variant details
- p.Val87Ala
- gnomAD 6-121447107-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.53
- MetaLR 0.79
- MetaSVM 0.47
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available