Numbers of missense variants which localise to different levels and regions of protein anatomy.

Data are listed for each of gnomAD, COSMIC, and ClinVar datasets. Here, “common” and “rare” variants are subset of gnomAD defined using the minor allele frequency (MAF) cutoff of 0.01, below which variants are classified as “rare.” This definition is used throughout this work except for the analysis on varying the “rarity” of variants (see main text). Note that the full-length domain-type statistics are omitted here, as by definition they will be identical to the “full-length domain” row. Fig 1B illustrates the definition of regions listed here in the first column.