A28T (p.Ala28Thr) variant of SLC12A2 (P55011)
A28T (p.Ala28Thr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- gnomAD 5-128084036-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.17
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available