R60G (p.Arg60Gly) variant of BUB1B (O60566)
R60G (p.Arg60Gly) 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 0.32 / 1. The record also includes published literature and structural context.
R60G (p.Arg60Gly) variant details
- p.Arg60Gly
- rs748915007
- ClinGen CA391677357
- ClinVar RCV002241945
- ClinVar RCV002412010
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.24
- SIFT 0.04
- MutPred 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)