E78D (p.Glu78Asp) variant of PIK3CD (O00329)
E78D (p.Glu78Asp) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PIK3CD-related disorder. The record also includes structural context.
E78D (p.Glu78Asp) variant details
- p.Glu78Asp
- rs1647287735
- ClinGen CA338300151
- ClinVar RCV003400003
- Uncertain significance
- PIK3CD-related disorder
- Missense
- ClinVar: Uncertain significance (PIK3CD-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available