G19R (p.Gly19Arg) variant of SLC12A2 (P55011)
G19R (p.Gly19Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- gnomAD 5-128084009-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available