Q7R (p.Gln7Arg) variant of CRBN (Protein cereblon)
Q7R (p.Gln7Arg) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- rs192011911
- ClinGen CA2229439
- ClinVar RCV000501243
- ClinVar RCV004023366
- Uncertain significance
- not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0795
- REVEL 0.04
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)