LCAT (P04180) variants and mutations

LCAT (also known as P04180) is a human protein-coding gene encoding a phosphatidylcholine-sterol acyltransferase protein. It esterifies free cholesterol on circulating lipoproteins, allowing HDL particles to mature and participate in reverse cholesterol transport. Biallelic loss-of-function variants cause familial LCAT deficiency or fish-eye disease, with very low HDL and variable corneal, renal, and hematologic manifestations. This analysis covers 667 LCAT variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes LCAT deficiency, Fish-eye disease, and Norum disease. Example LCAT variants include G2V, P3L, and P3Q.

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 LCAT variants

Examples include G2V, P3L, P3Q, P3R, P4S, G5S, S6F, P7R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.