D41Y (p.Asp41Tyr) variant of ATP1A2 (P50993)
D41Y (p.Asp41Tyr) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- gnomAD 1-160121195-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.75
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available