IL7R (P16871) variants and mutations

IL7R (also known as P16871) is a human protein-coding gene encoding an interleukin-7 receptor subunit alpha protein. It transmits survival and developmental signals required for T-cell and lymphoid homeostasis. Biallelic loss-of-function variants cause T-cell-negative, B-cell-positive severe combined immunodeficiency, while somatic activating alterations occur in acute lymphoblastic leukemia. This analysis covers 1,622 IL7R variants and mutations. Of these, 50% have computational variant effect predictions. Disease context includes immunodeficiency 104, asthma, and multiple sclerosis. Example IL7R variants include M1R, T2A, and T2I.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

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 IL7R variants

Examples include M1R, T2A, T2I, T2K, T2T, I3V, L4P, L4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.