Table 4.
Variant class and source | Missense substitution count | Average sequence analysis-based probability of pathogenicity |
---|---|---|
Class 4, 5 | 144 | 0.784 |
InSiGHTonly | 135 | 0.790 |
InSiGHT and gnomAD | 9 | 0.690 |
Class 3 | 1,299 | 0.391 |
InSiGHTonly | 408 | 0.579 |
InSiGHT and gnomAD | 176 | 0.388 |
gnomAD | 891 | 0.306 |
Class 1, 2 | 45 | 0.260 |
InSiGHTonly | 5 | 0.374 |
InSiGHT and gnomAD | 40 | 0.246 |