Y55D (p.Tyr55Asp) variant of PIK3CD (O00329)
Y55D (p.Tyr55Asp) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 14. The record also includes published literature and structural context.
Y55D (p.Tyr55Asp) variant details
- p.Tyr55Asp
- rs2524802135
- ClinGen CA338299864
- ClinVar RCV003583382
- Uncertain significance
- Immunodeficiency 14
- Missense
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)