Table 3.
In silico algorithms used to predict variant pathogenicity. Abbreviations: FATHMM, Functional Analysis through Hidden Markov Models; SIFT, SIFT Sequence; PROVEAN, Protein Variation Effect Analyzer; CADD, Combined Annotation‐Dependent Depletion.
| Name | Website | Indication of pathogenicity |
|---|---|---|
| FATHMM | http://fathmm.biocompute.org.uk | Damaging |
| MutationAssessor | http://mutationassessor.org | Medium, high |
| SIFT | http://sift.jcvi.org | Damaging |
| Aligh GVGD | http://agvgd.iarc.fr/index.php | ≥C15 |
| Mutation taster | http://www.mutationtaster.org | Disease causing |
| PolyPhen‐2 | http://genetics.bwh.harvard.edu/pph2 | Probably damaging, possibly damaging |
| PROVEAN | http://provean.jcvi.org/index.php | Deleterious |
| CADD | http://cadd.gs.washington.edu | Score ≥ 10 |