This tool makes use of scores we have precomputed based on Schmenger et al, npj Genomic Med, 2022 (PubMed) and includes also scores from other popular variant impact predictors (AlphaMissense, PMUT, etc.).

You can specify variants by UniProt accession (e.g. P04637) or Canonical gene name (e.g. TP53) followed by a forward slash and then the varaint as wild-type, position, mutant (amino acid one-letter codes) or by standard stop-gain (e.g. R278*), frameshift (e.g. M160fsTer34) or deletion (e.g. M160_R278del). Some examples appear by default in the form below. See HGVS Nomenclature for more information.

Variant List

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Citation: M.J. Betts, R.B. Russell. Amino acid properties and consequences of subsitutions. In Bioinformatics for Geneticists, M.R. Barnes, I.C. Gray eds, Wiley, 2003.
Author: Rob Russell, Heidelberg University

Scoring a list of protein coding variants