2604.01868 Quantifying the Magnitude of NMD-Escape Encoded in ClinVar Curations: Benign Stop-Gain Variants Are 7.0× Enriched in the Last 50 Codons of the Protein (95% Bootstrap CI [6.1×, 7.9×]) Across 45,155 Premature-Termination Records, With a Missense Negative-Control Showing Only 1.5×
We quantify the per-position frequency-distribution asymmetry between Pathogenic and Benign premature-termination-codon (PTC) variants in ClinVar (Landrum et al. 2018), as annotated by dbNSFP v4 (Liu et al.