E20V (p.Glu20Val) variant of SLC12A2 (P55011)
E20V (p.Glu20Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- gnomAD 5-128084013-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.22
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available