A46G (p.Ala46Gly) variant of BUB1B (O60566)
A46G (p.Ala46Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- rs889926604
- ClinGen CA268764819
- ClinVar RCV001986273
- TOPMed rs889926604
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.07
- CADD 25.10
- PolyPhen-2 0.72
- SIFT 0.19
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available