P74L (p.Pro74Leu) variant of BUB1B (O60566)
P74L (p.Pro74Leu) in BUB1B (O60566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- gnomAD 15-40170100-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available