Appendix 1 of García-García, Mol Vis 2020; 26:216-225.


Appendix 1. Pathogenicity predictions of missense variants identified in PEX6.

To access the data, click or select the words “Appendix 1.” PEX6: 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