| Typicality: | 0.419 |
| Saliency: | 0.297 |
| in heterozygosis | 2 | other |
| mutation → cause → severe phenotype | 6 |
| mutation → be associated with → severe phenotype | 4 |
| mutation → cause → severe phenotypes | 3 |
| negative | neutral | positive |
| 0.501 | 0.460 | 0.039 |
| Raw frequency | 13 |
| Normalized frequency | 0.297 |
| Modifier score | 0.900 |
| Perplexity | 237.662 |