Q42H (p.Gln42His) variant of BUB1B (O60566)
Q42H (p.Gln42His) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q42H (p.Gln42His) variant details
- p.Gln42His
- gnomAD rs1402691715
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.14
- CADD 20.70
- PolyPhen-2 0.50
- SIFT 0.45
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available