G2V (p.Gly2Val) variant of ATP1A1 (P05023)
G2V (p.Gly2Val) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD 1-116373516-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.48
- CADD 18.90
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available