R36W (p.Arg36Trp) variant of BUB1B (O60566)
R36W (p.Arg36Trp) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R36W (p.Arg36Trp) variant details
- p.Arg36Trp
- rs760805647
- ClinGen CA7475351
- ClinVar RCV002410992
- ClinVar RCV003507449
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.62
- MetaLR 0.27
- MetaSVM -0.52
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in PCS)
- UniProt: Uncertain significance (in PCS)
- Most common in the South Asian population (allele frequency 1.2e-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)