V75M (p.Val75Met) variant of GJA1 (Gap junction alpha-1 protein)
V75M (p.Val75Met) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V75M (p.Val75Met) variant details
- p.Val75Met
- gnomAD 6-121447070-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.80
- MetaLR 0.96
- MetaSVM 1.14
- CADD 25.30
- PolyPhen-2 0.61
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available