Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations

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Figure 2.
Figure 2.

PolyPhen classification of 12,421 nSNPs into benign, possibly-damaging, and probably-damaging categories. (A) Fraction of nSNPs classified into the three categories. The fraction of nSNPs designated to be benign at positions with different evolutionary rates (B) and original amino acids (C). Panel B also contains the accuracy of DAM inference from Figure 1B (filled squares). Error bars, 95% confidence interval based on the binomial variance of the fraction of sites.

This Article

  1. Published in Advance June 22, 2009, doi: 10.1101/gr.091991.109 Genome Res. 19: 1562-1569

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