G4E (p.Gly4Glu) variant of ATP1A1 (P05023)
G4E (p.Gly4Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- gnomAD 1-116373522-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.28
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available
- Literature evidence available