MSC: Mutation Significance Cutoff
MSC: gene-level CADD v1.7 cutoffs for each human protein-coding gene. It is used in conjunction with CADD v1.7 to estimate the impact of variants of interest, especially effective for safely filtering out benign variants. If CADD_variant ≥ MSC_gene, the variant is possibly pathogenic; otherwise, it is likely benign.
Input: a list of genes separated by lines
Output: MSC score calculated based on CADD v1.7 on HGMD database, with 95% and 99% confidence intervals
Reference: Itan Y, et al. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods. 2016.