G19E (p.Gly19Glu) variant of SLC12A2 (P55011)
G19E (p.Gly19Glu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- gnomAD 5-128084010-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.24
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available