Fig. 4: Pathogenicity and variant consequence.

Behavior of pathogenicity predictors for VUS variants (a) and pathogenic/likely pathogenic (b) variants, and variant consequence distribution for pathogenic and VUS (c) variants.
Behavior of pathogenicity predictors for VUS variants (a) and pathogenic/likely pathogenic (b) variants, and variant consequence distribution for pathogenic and VUS (c) variants.