E3* (p.Glu3Ter) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E3* (p.Glu3Ter) in SLC5A2 (Sodium/glucose cotransporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 16-31483143-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available