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. 2016 Oct 19;6:35498. doi: 10.1038/srep35498

Table 3. Computational analysis of the missense mutations identified in the WS probands.

Gene Mutation Phylop Score Mutation Taster PROVEAN (score) SIFT (score) CADD (score) Polyphen-2 MetaSVM
PAX3 p.V83G 4.921 Disease causing Deleterious (−5.671) Damaging (<0.001) Deleterious (28.1) probably damaging Damaging
SOX10 p.W114R 4.612 Disease causing Deleterious (−11.536) Damaging (0.001) Deleterious (25.7) probably damaging Damaging
SOX10 p.N109S 4.612 Disease causing Deleterious (−4.183) Damaging (<0.001) Deleterious (24.2) probably damaging Damaging
MITF p.R214Q 5.952 Disease causing Deleterious (−3.721) Damaging (<0.001) Deleterious (35.0) probably damaging Damaging