In silico tools used for prediction of pathogenicity of missense variants.
| S. No | Online tools | Pathogenicity score |
|---|---|---|
| 1 | Ensembl (http://www.ensembl.org, ENST00000401500) | 0.0 0.0 |
| 2 | SIFT (http://sift.jcvi.org/) | 0.63 1.0 |
| 3 | 1000 Genomes (http://www.internationalgenome.org/) | 0.0 0.0 |
| 4 | Exome Aggregation Consortium (http://exac.broadinstitute.org/) | 0.012 0.009 |
| 5 | Diploid Internal Frequency | 0.06 0.13 |
| 6 | PhastCons | 0.0 0.89 |
| 7 | Polyphen -2 (http://genetics.bwh.harvard.edu/pph2/) | 0.0 0.0 |