G8E (p.Gly8Glu) variant of BUB1B (O60566)
G8E (p.Gly8Glu) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 15-40161243-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0761
- REVEL 0.05
- CADD 6.34
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available