Combined Effect Pathogenicity Prediction for Human Non-synonymous Variants

This Website combines the predictions of multiple tools used to assess the pathogenicity of human non-synonymous variants.
By inputting the predictions from multiple tools, the combined score outperforms each individual method and the single
composite score is easier to interpret. Documentation for this website can be downloaded here.

Manual Entry Upload File

Most relevant tools only
PhyloP(-∞,+∞) 
Grantham Score[0,215] 
PolyPhen-2[0,1] 
SNPs&GO[0,1] 
MutPred[0,1] 
SIFT[0,1] 
MutationTaster2[0,1]
Mutation Assessor(-∞,+∞) 
FATHMM(-∞,+∞) 



Click to autofill with desease-causing mutation example (BRCA1 p.S1841R)
Click to autofill with a benign polymorphism example (ZNF273 p.E461D)


*) Imhotep was an Egyptian polymath who was chief minister to Djoser, the second king of the third dynasty who reigned 2630-2611 BCE. Imhotep, whose name means "he who cometh in peace", is thought to have been the architect of the step pyramid of Saqqara. He was described as being "the first figure of a physician to stand out clearly from the mists of antiquity" by the eminent Canadian physician Sir William Osler (http://www.gutenberg.org/files/1566/1566-h/1566-h.htm). In 525 BCE, Imhotep was deified as a god of medicine. He is associated with the Greek god of medicine, Asclepios (https://www.britannica.com/biography/Imhotep).