E93* (p.Glu93Ter) variant of CYP19A1 (Aromatase)
E93* (p.Glu93Ter) in CYP19A1 (Aromatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E93* (p.Glu93Ter) variant details
- p.Glu93Ter
- rs2141105930
- ClinGen CA392422244
- ClinVar RCV001382135
- Ensembl rs2141105930
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available