L17V (p.Leu17Val) variant of BUB1B (O60566)
L17V (p.Leu17Val) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 15-40165066-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.15
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available