T21M (p.Thr21Met) variant of SLC12A2 (P55011)
T21M (p.Thr21Met) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- gnomAD 5-128084016-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.28
- CADD 20.60
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available