L42F (p.Leu42Phe) variant of PIK3CD (O00329)
L42F (p.Leu42Phe) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Immunodeficiency 14. The record also includes structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- TOPMed rs1647005373
- Uncertain significance
- Immunodeficiency 14
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 14)
- UniProt: Uncertain significance
- Structural context available