R3L (p.Arg3Leu) variant of ATP1A2 (P50993)
R3L (p.Arg3Leu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- gnomAD 1-160115869-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available