L32* (p.Leu32Ter) variant of BUB1B (O60566)
L32* (p.Leu32Ter) in BUB1B (O60566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L32* (p.Leu32Ter) variant details
- p.Leu32Ter
- gnomAD 15-40165112-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available