Q7E (p.Gln7Glu) variant of CRBN (Protein cereblon)
Q7E (p.Gln7Glu) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- ExAC rs752968990
- TOPMed rs752968990
- gnomAD rs752968990
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available