Appendix 3 of García-García, Mol Vis 2020; 26:216-225.


Appendix 3. Pathogenicity predictions of missense variants identified in PEX6.

To access the data, click or select the words “Appendix 3.” NM_000287. Detailed information for all the databases are given below (ANNOVAR): SIFT - D: deleterious; PolyPhen 2 HDIV - D: probably damaging, P: possibly damaging; PolyPhen 2 Hvar - P: possibly damaging; B: benign; LRT - D: deleterious; B: benign; MutationTaster – D: disease_causing; MutationAssessor - N: neutral; FATHMM -D: deleterious; RadialSVM - D: deleterious; LR - D: deleterious; DANN - D: deleterious; PROVEAN – B: benign; D: deleterious; CADD – P: pathogenic; GERP++ higher scores are more deleterious, GERP++ RS Conservation score Score >4.4; PhyloP - higher scores are more deleterious, PhyloP Conservation score Score >1.6; SiPhy - higher scores are more deleterious, SiPhy Conservation score Score >12.17