G9V (p.Gly9Val) variant of BUB1B (O60566)
G9V (p.Gly9Val) 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 0.28 / 1. The record also includes structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- rs768279736
- NCI-TCGA TCGA novel
- ClinGen CA391676494
- cosmic curated COSV10584
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.20
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available