Q42R (p.Gln42Arg) variant of BUB1B (O60566)
Q42R (p.Gln42Arg) 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 population frequency data and structural context.
Q42R (p.Gln42Arg) variant details
- p.Gln42Arg
- rs368079817
- ClinGen CA268764759
- ClinVar RCV002242403
- ESP rs368079817
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.09
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available