IL18 (Interleukin-18) variants and mutations

IL18 (also known as Interleukin-18) is a human protein-coding gene encoding an interleukin-18 protein. After inflammasome-dependent processing, it promotes IFN-gamma production and strengthens natural-killer and T-cell responses, particularly together with IL-12. Excessive IL-18 activity contributes to macrophage-activation syndromes and other hyperinflammatory states. This analysis covers 453 IL18 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes hemophagocytic syndrome, adult-onset Still disease, and type 2 diabetes mellitus. Example IL18 variants include P5A, E7D, and D8N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IL18 variants

Examples include P5A, E7D, D8N, I11V, V14A, V14L, V14I, A15P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.