F857C (p.Phe857Cys) variant of UNC13D (Protein unc-13 homolog D)
F857C (p.Phe857Cys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemophagocytic lymphohistiocytosis 3. The record also includes published literature and structural context.
F857C (p.Phe857Cys) variant details
- p.Phe857Cys
- rs121434354
- ClinGen CA252038
- ClinVar RCV000002080
- TOPMed rs121434354
- Pathogenic
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- ClinVar: Pathogenic (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. (PMID 16825436)