G4W (p.Gly4Trp) variant of ATP1A1 (P05023)
G4W (p.Gly4Trp) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- gnomAD 1-116373521-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.49
- CADD 22.20
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the Amish population (allele frequency 0.043)
- Structural context available
- Literature evidence available