R67Q (p.Arg67Gln) variant of BUB1B (O60566)
R67Q (p.Arg67Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- rs781034323
- ClinGen CA7475407
- NCI-TCGA Cosmic COSV5501
- ClinVar RCV001935018
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.33
- MetaLR 0.34
- MetaSVM -0.54
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)