L11Q (p.Leu11Gln) variant of BUB1B (O60566)
L11Q (p.Leu11Gln) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- ExAC rs747863124
- TOPMed rs747863124
- gnomAD rs747863124
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.05
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.00
- CADD 8.33
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available