D73A (p.Asp73Ala) variant of BUB1B (O60566)
D73A (p.Asp73Ala) in BUB1B (O60566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D73A (p.Asp73Ala) variant details
- p.Asp73Ala
- gnomAD 15-40170099-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available