CETP (P11597) variants and mutations

CETP (also known as P11597) is a human protein-coding gene encoding a cholesteryl ester transfer protein. It transfers cholesteryl esters and triglycerides between HDL and apoB-containing lipoproteins, strongly influencing circulating lipoprotein composition. Loss-of-function variants can raise HDL cholesterol, while pharmacologic CETP inhibition has been developed to lower atherosclerotic cardiovascular risk. This analysis covers 824 CETP variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes cholesterol-ester transfer protein deficiency, coronary artery disorder, and metabolic syndrome. Example CETP variants include L2V, L2L, and A3P.

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 CETP variants

Examples include L2V, L2L, A3P, A3T, A4S, T5K, T5S, T5A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.