E2* (p.Glu2Ter) variant of SLC12A2 (P55011)
E2* (p.Glu2Ter) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 5-128083958-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available