What is the meaning of the MutationTaster Score and the MutationTaster Predictions?

The MutationTaster (MT) score is the probability that the prediction is true:

"Scores below 0.5 hence indicate, MT classifier comes to a different conclusion. A few SNPs listed in HapMap introduce premature stop codons and will cause NMD; these are likely to be mistaken for disease mutations." (MT documentation)

MutationTaster predicts an alteration as one of four possible types:

  • D: disease causing - i.e. probably deleterious
  • A: disease causing automatic - i.e. known to be deleterious, see section dbSNP / TGP / ClinVar / HGMD for details
  • N: polymorphism - i.e. probably harmless
  • P: polymorphism automatic - i.e. known to be harmless, see section dbSNP / TGP / ClinVar / HGMD for details.

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