Q7K (p.Gln7Lys) variant of CRBN (Protein cereblon)
Q7K (p.Gln7Lys) in CRBN (Protein cereblon) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- rs752968990
- ExAC rs752968990
- TOPMed rs752968990
- gnomAD rs752968990
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available