E17* (p.Glu17Ter) variant of AKT1 (P31749)
E17* (p.Glu17Ter) in AKT1 (P31749) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PROTEUSS and breast cancer.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- cosmic curated COSV62576
- ExAC rs121434592
- gnomAD rs121434592
- Pathogenic
- in PROTEUSS and breast cancer
- Stop Gained
- EBI: Pathogenic (in PROTEUSS and breast cancer)
- UniProt: Pathogenic (in PROTEUSS and breast cancer)