E2K (p.Glu2Lys) variant of SLC12A2 (P55011)
E2K (p.Glu2Lys) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 5-128083958-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available