E20G (p.Glu20Gly) variant of SLC12A2 (P55011)
E20G (p.Glu20Gly) 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 and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- Ensembl rs2126627598
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.28
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available