P22T (p.Pro22Thr) variant of SLC12A2 (P55011)
P22T (p.Pro22Thr) 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.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- gnomAD 5-128084018-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.18
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available