E96* (p.Glu96Ter) variant of CYP27B1 (O15528)
E96* (p.Glu96Ter) in CYP27B1 (O15528) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- TOPMed rs1955358409
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available