P5H (p.Pro5His) variant of SLC12A2 (P55011)
P5H (p.Pro5His) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P5H (p.Pro5His) variant details
- p.Pro5His
- gnomAD 5-128083968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.32
- CADD 15.90
- PolyPhen-2 0.34
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available