K26* (p.Lys26Ter) variant of HSD3B2 (P26439)
K26* (p.Lys26Ter) in HSD3B2 (P26439) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K26* (p.Lys26Ter) variant details
- p.Lys26Ter
- rs2526373039
- ClinGen CA341394151
- ClinVar RCV003704840
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available