G9C (p.Gly9Cys) variant of BUB1B (O60566)
G9C (p.Gly9Cys) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD 15-40161245-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.08
- CADD 18.90
- PolyPhen-2 0.42
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available