E45* (p.Glu45Ter) variant of MSI1 (O43347)
E45* (p.Glu45Ter) in MSI1 (O43347) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- TOPMed rs867317880
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 39.00
- Population evidence available
- Structural context available