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Performance of prediction tools for the known MH-causing variants and common sequence variants in RYR1 and CACNA1S. A cut-off 15
| Sensitivity RYR1 (n=35) | Specificity RYR1 (n=6) | Sensitivity CACNA1S (n=2) | Specificity CACNA1S (n=6) | |
|---|---|---|---|---|
| Polyphen-2 | 0.97 | 1 | 1 | 0.33 |
| Pmut | 0.86 | 0.67 | 0.5 | 0.67 |
| SIFT | 0.91 | 1 | 1 | 0.67 |
| MutPred | 1 | 0.83 | 1 | 0.83 |
| SNPs&GO | 1 | 0.83 | 1 | 0 |
| PANTHER | 0.94 | 0 | 1 | 0.5 |
| PhD-SNP | 1 | 1 | 1 | 0.17 |
| CADDa | 1 | 0.5 | 1 | 0 |
