G4W (p.Gly4Trp) variant of ATP1A2 (P50993)
G4W (p.Gly4Trp) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- gnomAD 1-160115871-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.56
- CADD 33.00
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available