A28D (p.Ala28Asp) variant of SLC12A2 (P55011)
A28D (p.Ala28Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 5-128084037-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.22
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available