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A web tool for predicting a disease causing potential of single nucleotide polymorphism (SNP) and single amino acid substitutions.


Biology, Genetics, DNA polymorphism


  • Operation: Prediction and recognition
  • Software interface: Web user interface
  • Language: Perl
  • Operating system: Linux, Mac OS X, Microsoft Windows
  • License: Not stated
  • Cost: Free
  • Version name: -
  • Credit: Deutsche Forschungsgemeinschaft via the NeuroCure Cluster of Excellence, Exc 257, and the Collaborative Research Center 665 TP C4, the German
  • Contact: Jana Marie Schwarz at, Dominik Seelow dominik.seelow at
  • Collection: -


Schwarz JM, Rödelsperger C, Schuelke M, Seelow D "MutationTaster evaluates disease-causing potential of sequence alterations." Nat. Methods 2010; 7(8):575-6
PMID: 20676075

Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM "The complete genome of an individual by massively parallel DNA sequencing." Nature 2008; 452(7189):872-6
PMID: 18421352

Schwarz JM, Cooper DN, Schuelke M, Seelow D "MutationTaster2: mutation prediction for the deep-sequencing age." Nat. Methods 2014; 11(4):361-2
PMID: 24681721

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