R60Q (p.Arg60Gln) variant of BUB1B (O60566)
R60Q (p.Arg60Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs770498351
- ClinGen CA7475362
- cosmic curated COSV55009
- ClinVar RCV002284718
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.01
- CADD 31.00
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available