| Sorting Intolerant from Tolerant (SIFT) Vaser et al., 2016
|
Deleterious: score 0.01 with scores ranging from 0 to 1 and scores below 0.05 considered deleterious |
| Polymorphism Phenotyping (PolyPhen-2) Adzhubei et al., 2010
|
Benign: score 0.437 |
| MutationTaster Schwarz et al., 2010
|
Deleterious |
| Combined Annotation Dependent Depletion (CADD) Rentzsch et al., 2019
|
Deleterious: scaled C-score 15.3800, with a score of greater than or equal to 10 indicating a deleterious substitution |
| Deleterious Annotation of Genetic Variants Using Neural Networks (DANN) Quang et al., 2015
|
Deleterious: score 0.99 with scores ranging from 0 to 1 and higher values indicating a variant is more likely to be deleterious |
| Rare Exome Variant Ensemble Learner (REVEL) Ioannidis et al., 2016
|
Benign: score 0.28 with scores ranging from 0 to 1 and scores >0.803 classified as pathogenic |
