Q121* (p.Gln121Ter) variant of CYP27B1 (O15528)
Q121* (p.Gln121Ter) in CYP27B1 (O15528) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
Q121* (p.Gln121Ter) variant details
- p.Gln121Ter
- rs760233049
- ClinGen CA6658486
- ClinVar RCV002670823
- ExAC rs760233049
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available