V75L (p.Val75Leu) variant of GJA1 (Gap junction alpha-1 protein)
V75L (p.Val75Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V75L (p.Val75Leu) variant details
- p.Val75Leu
- gnomAD 6-121447070-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.77
- MetaLR 0.94
- MetaSVM 1.11
- CADD 25.00
- PolyPhen-2 0.72
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available