A16D (p.Ala16Asp) variant of SLC12A2 (P55011)
A16D (p.Ala16Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 5-128084001-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.40
- CADD 11.50
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available