P5T (p.Pro5Thr) variant of SLC12A2 (P55011)
P5T (p.Pro5Thr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD 5-128083967-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.19
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available