Table 1. In silico prediction of the functional impact of the variation.
| Gene | Type | Mutation | Prediction tool | Predicted pathogenicity | Score |
|---|---|---|---|---|---|
| MYL2 | Missense | p.Gly87Ala rs397516399 | Mutation Assessor | NEUTRAL | 0.6 |
| PROVEAN | DELETERIOUS | -4.44 | |||
| SIFT | TOLERATED | 0.091 | |||
| PolyPhen-2 | LIKELY HARMFUL | 1.0 | |||
| SUSPECT | Score 15 (0-100) | 15 |