Q47E (p.Gln47Glu) variant of BUB1B (O60566)
Q47E (p.Gln47Glu) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q47E (p.Gln47Glu) variant details
- p.Gln47Glu
- gnomAD 15-40165156-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.15
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available