Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome
Fig 3
Proportion of variants predicted to impact structural and functional mechanisms among variants from single residue non-frameshifting insertion/deletion variants.
A variant was considered “predicted” if its score was as high or higher than the 95-th percentile of the gnomAD score distribution. We contrast the functional impact of COSMIC, HGMD (n = 1556), de novo variants (n = 168). The highly recurrent set includes variants at residues impacted by at least 25 missense and insertion/deletion variants in the COSMIC database (n = 98), compared to recurrent variants which are impacted at least twice (n = 3622) and non-recurrent variants (n = 2417).