D75G (p.Asp75Gly) variant of ATP1A1 (P05023)
D75G (p.Asp75Gly) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D75G (p.Asp75Gly) variant details
- p.Asp75Gly
- gnomAD 1-116387328-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.81
- CADD 25.60
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available