Table 2. Comparison of constraint metrics for highly constrained (pLI = 1) genes in terms of their mode of inheritance.
| Characteristics | Autosomal dominant inheritance | Autosomal recessive inheritance | Mixed inheritance | X linked inheritance | p |
|---|---|---|---|---|---|
| Genes | 150 | 26 | 14 | 27 | |
| Missense Z-Score | 3.7 (2.0) | 3.0 (2.1) | 2.9 (1.8) | 3.9 (2.1) | 0.15 |
| Synonymous Z-Score | -0.9 (2.4) | -0.2 (1.4) | -0.8 (1.2) | -0.4 (1.3) | 0.46 |
| Number of CCRs in 99th percentile | 2.0 (3.1) | 0.7 (1.4) | 1.1 (1.9) | 0 | < 0.001 |
| GeVIR score | 10.8 (10.9) | 21.4 (15.8) | 18.3 (17.1) | 16.3 (17.5) | 0.001 |
Data are reported as mean (standard deviation). pLI, probability of loss-of-function intolerance; GeVIR, gene variation intolerance rank; CCR, constraint coding region.