E2G (p.Glu2Gly) variant of SLC12A2 (P55011)
E2G (p.Glu2Gly) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 5-128083959-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available