G8W (p.Gly8Trp) variant of BUB1B (O60566)
G8W (p.Gly8Trp) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- rs2037039568
- ClinGen CA391676487
- ClinVar RCV003029255
- ClinVar RCV005535494
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.05
- CADD 22.30
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)