A7V (p.Ala7Val) variant of SLC12A2 (P55011)
A7V (p.Ala7Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 5-128083974-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available