Figure 5.

Comparison of median MTR scores of published ultra-rare P/LP ClinVar variants

Violin plots with boxplots showing distribution of MTR scores of published missense ClinVar P/LP variants divided into those associated with DEE (n = 302) and non-DEE (n = 29) epilepsies. We considered only those genes harboring missense variants in both groups (14 genes, see gene set enrichment testing, Table S2). Ultra-rare control variants (n = 335) drawn from Epi25 analysis (see sub-genic intolerance comparison). Comparisons by Wilcoxon signed-rank test. p values unadjusted. The middle horizontal line represents the median value and the lower and upper hinges represent the 1^st and 3^rd quartiles. The notches in the boxplot approximate the 95% confidence interval (see data analysis and display). MTR median ± standard deviation: DEE 0.57 ± 0.24, non-DEE 0.70 ± 0.18, control 0.83 ± 0.16. ^∗∗p ≤ 0.01, ^∗∗∗p ≤ 0.001, ^∗∗∗∗p ≤ 0.0001.