E2D (p.Glu2Asp) variant of SLC12A2 (P55011)
E2D (p.Glu2Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 5-128083960-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.23
- CADD 9.72
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available