E17* (p.Glu17Ter) variant of AKT2 (P31751)
E17* (p.Glu17Ter) in AKT2 (P31751) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HIHGHH. The record also includes structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- Ensembl rs387906659
- Pathogenic
- in HIHGHH
- Stop Gained
- EBI: Pathogenic (in HIHGHH)
- UniProt: Pathogenic (in HIHGHH)
- Structural context available