CLU (Clusterin) variants and mutations

CLU (also known as Clusterin) is a human protein-coding gene encoding a clusterin protein. It acts as an extracellular chaperone and participates in lipid transport, complement regulation, apoptotic-cell clearance, and responses to tissue injury. Common variation near CLU influences late-onset Alzheimer disease risk, and altered expression is observed in cardiovascular disease and cancer. This analysis covers 737 CLU variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes Alzheimer disease, dementia, and late-onset Alzheimers disease. Example CLU variants include M1?, M2V, and T4A.

Variant analysis overview

Gene: CLU
Protein: Clusterin
UniProt accession: P10909
Organism: Homo sapiens
Variants analyzed: 737
Variant scope: all variants
Completed: 2026-08-21

Variant and mutation evidence

Variant composition: 551 unspecified-consequence records; 1 stop retained variant; 5 stop-gained variants; 80 missense variants; 2 splice-region variants; 78 synonymous variants; 13 frameshift variants; 2 in-frame insertions; 4 in-frame deletions; 1 substitution
Prediction scores: 615 variants have prediction scores (83% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Alzheimer disease, dementia, late-onset Alzheimers disease, prostate cancer, dengue disease, neurodegenerative disease, Lewy body dementia, Hypermetropia, Abnormality of refraction, refractive error, breast cancer, myopia.

Protein structure and variant hotspots

Protein features: 8 post-translational modification sites.
PTM context: 11 variants overlap post-translational modification sites.

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 CLU variants

Examples include M1?, M2V, T4A, T4I, L5A, L6Q, L6V, F8L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

CLU analysis run — CLU (737 variants) — completed 2026-08-21