Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts

Missense variant pathogenicity is usually interpreted according to the predicted effect on the protein via polypeptide alterations. But missense variants can also cause disease by disrupting RNA splicing, here defined as missense spliceogenic variants (MSVs). Although splice prediction is increasingly incorporated into variant classification pipelines, it is not a standardised process, so the scale and clinical relevance of MSVs remains poorly defined. We integrated whole-genome sequencing and circulating proteomic data from ~50,000 UK Biobank participants to characterise MSVs using ~8.3 milli

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