Table 1 of Simpson, Mol Vis 2017; 23:179-184.

Table 1. Analysis of the TP63 mutation Arg343Trp.

Gene Detected Coding Sequence Variations gnomAD Allele Frequency Blosum62 Score PolyPhen
 Score SIFT
 Score
TP63 Arg343Trp 0% −3 Probably Damaging Deleterious

The Arg343Trp mutation was not observed in the gnomAD database of over 126,000 human exomes suggesting that it is essentially absent from unselected populations. Mutation analyses with Blosum62, PolyPhen2, and SIFT all suggest that the Arg343Trp mutation is likely pathogenic.

Simpson, Mol Vis 2017; 23:179-184. http://www.molvis.org/molvis/v23/179

©2017 Molecular Vision http://www.molvis.org/molvis/

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