Q30* (p.Gln30Ter) variant of BUB1B (O60566)
Q30* (p.Gln30Ter) in BUB1B (O60566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- gnomAD 15-40165105-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available