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Missense prediction tools catalogue >>

A single nucleotide polymorphism (SNP) in a coding region of DNA that results in an amino acid change in the corresponding protein is termed a non-synonymous or missense variant. Many of these variants have been implicated in human disease phenotypes but, in the absence of functional assays, the related pathogenicity of many remain unclassified.  A number of in silico tools have been developed to predict the effect of missense variants. Some of these tools are used routinely by diagnostic labs to advise clinicians of disease likelihood in combination with other evidence.

A report analysing popular missense prediction tools and the use of multiple sequence alignments is available here.

A short review and summary of popular tools is available here. 

Information on the general use of multiple sequence alignments in missense prediction tools is here.