E40D (p.Glu40Asp) variant of AKT1 (P31749)
E40D (p.Glu40Asp) in AKT1 (P31749) is a missense change. Clinical records from EBI and UniProt describe it as likely benign.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- ESP rs370287382
- ExAC rs370287382
- TOPMed rs370287382
- gnomAD rs370287382
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign