A16V (p.Ala16Val) variant of SLC12A2 (P55011)
A16V (p.Ala16Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 5-128084001-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.18
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available