Figure 3. Identification of pathogenic missense variants by deep mutational scanning (DMS) data sets and variant effect predictors (VEPs).
-
A‐FROC AUC values for DMS data sets and VEPs in distinguishing between pathogenic missense variants from ClinVar and putatively benign variants from gnomAD for six human disease genes (A–F). The numbers of variants in each class are indicated on the plot. The different DMS data sets for each protein are described in Table EV7.