G4E (p.Gly4Glu) variant of ATP1A2 (P50993)
G4E (p.Gly4Glu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- gnomAD 1-160115872-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available