G19W (p.Gly19Trp) variant of SLC12A2 (P55011)
G19W (p.Gly19Trp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G19W (p.Gly19Trp) variant details
- p.Gly19Trp
- gnomAD 5-128084009-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.22
- CADD 24.40
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available