L11P (p.Leu11Pro) variant of BUB1B (O60566)
L11P (p.Leu11Pro) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- ExAC rs747863124
- TOPMed rs747863124
- gnomAD rs747863124
- Conflicting interpretations
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.04
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.00
- CADD 8.68
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available