Q7L (p.Gln7Leu) variant of CRBN (Protein cereblon)
Q7L (p.Gln7Leu) in CRBN (Protein cereblon) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
Q7L (p.Gln7Leu) variant details
- p.Gln7Leu
- 1000Genomes rs192011911
- ExAC rs192011911
- TOPMed rs192011911
- gnomAD rs192011911
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0844
- REVEL 0.03
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available