A25V (p.Ala25Val) variant of SLC12A2 (P55011)
A25V (p.Ala25Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 5-128084028-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.12
- CADD 8.75
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available