PolyPhen-2 v2.2.2 training sets statistics (2011_12):
HumDiv: 5564 deleterious + 7539 neutral mutations from the same set of 978
human proteins.
HumVar: 22196 deleterious + 21119 neutral mutations in 9679 human proteins, no
restriction on deleterious and neutral mutations coming from same proteins.
HumDiv is Mendelian disease variants vs. divergence from close mammalian
homologs of human proteins (≥95% sequence identity).
HumVar is all human variants associated with some disease (except cancer
mutations) or loss of activity/function vs. common (minor allele frequency >1%)
human polymorphism with no reported association with a disease or other
effect.
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