E2E (p.Glu2Glu) variant of SLC12A2 (P55011)
E2E (p.Glu2Glu) in SLC12A2 (P55011) is a synonymous 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.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD 5-128083960-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 5.38
- Population evidence available
- Structural context available
- Literature evidence available