E20K (p.Glu20Lys) variant of SLC12A2 (P55011)
E20K (p.Glu20Lys) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- Ensembl rs1383164404
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.24
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available