Q47R (p.Gln47Arg) variant of BUB1B (O60566)
Q47R (p.Gln47Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs2037080856
- ClinGen CA391677208
- ClinVar RCV004429396
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.06
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)