E45* (p.Glu45Ter) variant of HSD3B2 (P26439)
E45* (p.Glu45Ter) in HSD3B2 (P26439) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- rs2526373514
- ClinGen CA341394279
- ClinVar RCV003549216
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available