E63* (p.Glu63Ter) variant of BUB1B (O60566)
E63* (p.Glu63Ter) in BUB1B (O60566) 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 and structural context.
E63* (p.Glu63Ter) variant details
- p.Glu63Ter
- ExAC rs746902649
- TOPMed rs746902649
- gnomAD rs746902649
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 42.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available