LDLR Variant Functional Scores and ACMG Evidence from Prime Editing Screening

Phillip Zhou's supplemental table provides functional data from a prime editing screen of 5,184 LDLR coding variants, linked to a 2025 preprint. The dataset includes experimentally derived functional scores, ACMG evidence scores, plasmid lists, and primer sequences. It is a 4.5 MB XLSX file shared under a CC-BY-4.0 license on figshare.

Use Cases

• Reclassifying LDLR variants of uncertain significance based on experimentally derived functional scores.
• Benchmarking prime editing functional scores against clinical LDL-C levels from UK Biobank participants.
• Prioritizing LDLR variants for expert review by integrating functional evidence with ACMG/AMP guidelines.
• Comparing variant effect measurements from prime editing, base editing, and cDNA-based screening approaches.
• Investigating apolipoprotein binding interactions with LDLR using variants that alter LDL-C uptake.

Strengths

• Functional scores for 5,184 LDLR coding variants, enabling broad coverage.
• Activity-normalized measurements account for variable prime editing efficiency.
• Includes ACMG evidence scores calibrated to variant interpretation guidelines.
• Demonstrated concordance with clinically observed LDL-C levels from UK Biobank participants.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect experimental bias inherent to the prime editing screening pipeline.

Provenance

Source

figshare, author Phillip Zhou.

Collection Method

Data generated via an activity-normalized prime editing screening pipeline.

Freshness

Last updated 2026-04-13 18:29:44; freshness should be verified.