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Qualitative z-score ranges and probabilities of pathogenicity for potential damage to reference splice junctions
| Qualitative Category | MES z-score range | Alpha | 95% CI | Number of variants used |
Prior probability |
|---|---|---|---|---|---|
| Improved | Score IMPROVED vs reference sequence |
0.00 | (0.00, 0.08) | 46 | 0.04 |
| Minimal | Donor: z > 0 | 0.00 | (0.00, 0.08) | 24 | 0.04 |
| Acc: z > 0.5 | |||||
| Moderate | Donor: −2 ≤ z ≤ 0 | 0.34 | (0.15, 0.55) | 66 | 0.34 |
| Acc: −1.5 ≤ z ≤ 0.5 | |||||
| High | Donor: z < −2 | 0.97 | (0.82, 1.00) | 94 | 0.97 |
| Acc: z < −1.5 |
