Q73* (p.Gln73Ter) variant of CYP11B1 (P15538)
Q73* (p.Gln73Ter) in CYP11B1 (P15538) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- rs1554653675
- ClinGen CA372397102
- ClinVar RCV000674113
- ClinVar RCV001233426
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available