E11* (p.Glu11Ter) variant of SLC2A4 (P14672)
E11* (p.Glu11Ter) in SLC2A4 (P14672) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- gnomAD 17-7281965-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available