CFH (Complement factor H) variants and mutations

CFH (also known as Complement factor H) is a human protein-coding gene encoding a complement factor H protein. It restrains the alternative complement pathway on host surfaces and in plasma, protecting tissues from uncontrolled complement amplification. Pathogenic variants or risk alleles are associated with atypical hemolytic uremic syndrome, C3 glomerulopathy, and age-related macular degeneration. This analysis covers 262 CFH variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes complement factor H deficiency, age-related macular degeneration, and atypical hemolytic-uremic syndrome. Example CFH variants include R2T, R2K, and R2R.

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, ClinGen, MaveDB, LitVar.

Notable CFH variants

Examples include R2T, R2K, R2R, L3I, L3F, L3V, L4P, L4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.