R25S (p.Arg25Ser) variant of AKT1 (P31749)
R25S (p.Arg25Ser) in AKT1 (P31749) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CWS6. The record also includes structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- TOPMed rs397514644
- gnomAD rs397514644
- Pathogenic
- in CWS6
- Missense
- EBI: Pathogenic (in CWS6)
- UniProt: Pathogenic (in CWS6)
- Structural context available