A7T (p.Ala7Thr) variant of SLC12A2 (P55011)
A7T (p.Ala7Thr) 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.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD 5-128083973-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- CADD 19.20
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available