| Typicality: | 0.517 |
| Saliency: | 0.473 |
| for understanding human phenotypes | 5 | purpose |
| mutation → affect → splicing | 25 |
| mutation → disrupt → splicing | 3 |
| mutation → affect → splicing efficiency | 3 |
| negative | neutral | positive |
| 0.230 | 0.648 | 0.122 |
| Raw frequency | 31 |
| Normalized frequency | 0.473 |
| Modifier score | 0.700 |
| Perplexity | 483.164 |