E20D (p.Glu20Asp) variant of SLC12A2 (P55011)
E20D (p.Glu20Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 5-128084014-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.29
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available