R7S (p.Arg7Ser) variant of ATP1A2 (P50993)
R7S (p.Arg7Ser) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 1-160120912-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.49
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available