K42* (p.Lys42Ter) variant of CRBN (Protein cereblon)
K42* (p.Lys42Ter) in CRBN (Protein cereblon) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
K42* (p.Lys42Ter) variant details
- p.Lys42Ter
- rs2126069389
- ClinGen CA351453792
- ClinVar RCV002252831
- Ensembl rs2126069389
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available