TABLE 2.
Pathogenicity index of the identified VWA8 variant [c.947A > G; p.(Asp316Gly)] in the present study.
| Prediction tool | Pathogenicity | Score | Range |
| PROVEAN | Damaging | –5.39, –4.99 | –14 to +14 |
| MutationTaster | Disease causing | 1 | – |
| SIFT | Tolerated, damaging | 0.092, 0.026 | 0–1 |
| Varsome | VUS | PP3, BP1 | – |
| DANN | Pathogenic | 0.9958 | 0–1 |
| Mutation assessor | Medium | 3.005 | –5.135 to +6.49 |
| FATHMM-XF | Damaging | 0.8809 | 0–1 |
| FATHMM-MKL | Damaging | 0.9809 | 0–1 |
| BayesDel addAF | Damaging | 0.0892 | – |
| LRT | Conserved | 9.9999e–7 | 0–1 |
| EIGEN PC | Pathogenic | 0.4296 | – |
| GERP | Conserved | 5.5599 | –12.3 to 6.17 |