L45P (p.Leu45Pro) variant of BUB1B (O60566)
L45P (p.Leu45Pro) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- ExAC rs765327985
- TOPMed rs765327985
- gnomAD rs765327985
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.56
- MetaLR 0.18
- MetaSVM -0.74
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available