T21K (p.Thr21Lys) variant of SLC12A2 (P55011)
T21K (p.Thr21Lys) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T21K (p.Thr21Lys) variant details
- p.Thr21Lys
- gnomAD 5-128084016-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.25
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available