T6M (p.Thr6Met) variant of SLC12A2 (P55011)
T6M (p.Thr6Met) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T6M (p.Thr6Met) variant details
- p.Thr6Met
- gnomAD 5-128083971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.31
- CADD 15.20
- PolyPhen-2 0.09
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available