Figure 4.

Proportion of Nonsynonymous Single-Nucleotide Polymorphisms Predicted to be Protein Damaging Plotted against Minor Allele Frequency

Each point represents the proportion of functional nsSNPs in a given MAF category. (A) shows the proportion predicted by the PolyPhen method. Dark solid lines are the logarithmic-regression curves. The orange line is the regression curve adjusted for PolyPhen's sensitivity and specificity (see Material and Methods for details). Vertical bars represent SEs computed on the basis of the multinomial distribution. (B) shows the proportion predicted by the sorting intolerant from tolerant (SIFT) method.