A25D (p.Ala25Asp) variant of SLC12A2 (P55011)
A25D (p.Ala25Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- gnomAD 5-128084028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- CADD 2.96
- PolyPhen-2 0.07
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available