p.Gly71 Asn72del variant of BUB1B (O60566)
p.Gly71 Asn72del in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly71 Asn72del variant details
- gnomAD 15-40170091-CTGGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 20.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available