E67* (p.Glu67Ter) variant of MCM5 (P33992)
E67* (p.Glu67Ter) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E67* (p.Glu67Ter) variant details
- p.Glu67Ter
- gnomAD 22-35401390-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 2.61
- Population evidence available
- Structural context available
- Literature evidence available