Q79* (p.Gln79Ter) variant of CRBN (Protein cereblon)
Q79* (p.Gln79Ter) in CRBN (Protein cereblon) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q79* (p.Gln79Ter) variant details
- p.Gln79Ter
- rs377356443
- ClinGen CA2229333
- ClinVar RCV001559874
- ESP rs377356443
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 40.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Structural context available