S39Y (p.Ser39Tyr) variant of BUB1B (O60566)
S39Y (p.Ser39Tyr) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S39Y (p.Ser39Tyr) variant details
- p.Ser39Tyr
- gnomAD 15-40165133-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.29
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available