E57* (p.Glu57Ter) variant of INS (Insulin)
E57* (p.Glu57Ter) in INS (Insulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- gnomAD 11-2160803-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 46.00
- Population evidence available
- Structural context available
- Literature evidence available