P22A (p.Pro22Ala) variant of SLC12A2 (P55011)
P22A (p.Pro22Ala) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- gnomAD 5-128084018-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.21
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available