A10V (p.Ala10Val) variant of BUB1B (O60566)
A10V (p.Ala10Val) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs1160797735
- ClinGen CA391676500
- ClinVar RCV003828554
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.72
- SIFT 0.01
- MutPred 0.09
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available