D43Y (p.Asp43Tyr) variant of ATP1A1 (P05023)
D43Y (p.Asp43Tyr) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD 1-116384786-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available