P8T (p.Pro8Thr) variant of SLC12A2 (P55011)
P8T (p.Pro8Thr) 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.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 5-128083976-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.29
- CADD 21.70
- PolyPhen-2 0.19
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available