R60W (p.Arg60Trp) variant of BUB1B (O60566)
R60W (p.Arg60Trp) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- rs748915007
- ClinGen CA7475361
- ClinVar RCV002235095
- ClinVar RCV005532776
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -1.03
- CADD 23.80
- PolyPhen-2 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)