W15* (p.Trp15Ter) variant of CYP11B1 (P15538)
W15* (p.Trp15Ter) in CYP11B1 (P15538) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W15* (p.Trp15Ter) variant details
- p.Trp15Ter
- rs1554653714
- ClinGen CA372397447
- ClinVar RCV000674379
- ClinVar RCV001855607
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available