L11R (p.Leu11Arg) variant of BUB1B (O60566)
L11R (p.Leu11Arg) 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; Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs747863124
- ClinGen CA391676503
- ClinVar RCV002574087
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available