Fig. 2
From: Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
Function scores and variant reclassification for MSH2 missense variants, for A all single nucleotide missense variants, B missense VUSs, and C missense variants previously classified as pathogenic or likely pathogenic, including those used for validation. For each group of variants, splicing status was scored by SpliceAI (bar charts at left), and for splice-neutral variants (SpliceAI score<0.2), a histogram of LoF scores from deep mutational scanning are displayed to the right