R4P (p.Arg4Pro) variant of SLC12A2 (P55011)
R4P (p.Arg4Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- gnomAD 5-128083965-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.24
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available