R3P (p.Arg3Pro) variant of ATP1A2 (P50993)
R3P (p.Arg3Pro) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- gnomAD 1-160115869-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available