E20Q (p.Glu20Gln) variant of SLC12A2 (P55011)
E20Q (p.Glu20Gln) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- gnomAD 5-128084012-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.32
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available