G4G (p.Gly4Gly) variant of ATP1A2 (P50993)
G4G (p.Gly4Gly) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G4G (p.Gly4Gly) variant details
- p.Gly4Gly
- gnomAD 1-160115873-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available