Q47P (p.Gln47Pro) variant of BUB1B (O60566)
Q47P (p.Gln47Pro) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q47P (p.Gln47Pro) variant details
- p.Gln47Pro
- rs2037080856
- ClinGen CA391677207
- ClinVar RCV002389451
- ClinVar RCV003095110
- Uncertain significance
- Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- MetaLR 0.09
- MetaSVM -1.13
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.22
- 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 9e-07)
- 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)