E17Q (p.Glu17Gln) variant of AKT1 (P31749)
E17Q (p.Glu17Gln) in AKT1 (P31749) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PROTEUSS and breast cancer.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- ExAC rs121434592
- gnomAD rs121434592
- Pathogenic
- in PROTEUSS and breast cancer
- Missense
- EBI: Pathogenic (in PROTEUSS and breast cancer)
- UniProt: Pathogenic (in PROTEUSS and breast cancer)