P5R (p.Pro5Arg) variant of SLC12A2 (P55011)
P5R (p.Pro5Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- gnomAD 5-128083968-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- CADD 16.20
- PolyPhen-2 0.11
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available