| Typicality: | 0.310 |
| Saliency: | 0.140 |
| mutation → be present in → all affected living family members | 3 |
| mutation → be present in → affected family members | 3 |
| negative | neutral | positive |
| 0.199 | 0.756 | 0.045 |
| Raw frequency | 6 |
| Normalized frequency | 0.140 |
| Modifier score | 0.500 |
| Perplexity | 88.705 |