V18A (p.Val18Ala) variant of SLC12A2 (P55011)
V18A (p.Val18Ala) 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.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- gnomAD 5-128084007-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.20
- CADD 5.14
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available