R7L (p.Arg7Leu) variant of ATP1A2 (P50993)
R7L (p.Arg7Leu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD 1-160120913-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available