R36Q (p.Arg36Gln) variant of BUB1B (O60566)
R36Q (p.Arg36Gln) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R36Q (p.Arg36Gln) variant details
- p.Arg36Gln
- rs534297115
- ClinGen CA7475352
- ClinVar RCV001884665
- UniProt VAR 028921
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.73
- MetaLR 0.30
- MetaSVM -0.45
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Pathogenic (in PCS)
- UniProt: Pathogenic (in PCS)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid… (PMID 16411201)