Table 4.
Mean, median, and 95% CI points for CA‐LALD birth prevalence estimates in European‐ancestry populations using E8SJM allele frequency estimates for all collected data sources
| E8SJM AF source | Low 95% CI | Median | High 95% CI | Mean |
|---|---|---|---|---|
| EVS | 1.86e−07 | 1.20e−06 | 5.20e−06 | 1.90e−06 |
| ExAC | 2.48e−06 | 3.90e−06 | 6.00e−06 | 4.10e−06 |
| gnomAD | 3.56e−06 | 4.80e−06 | 6.50e−06 | 4.90e−06 |
| Scott | 4.79e−06 | 1.32e−05 | 3.15e−05 | 1.54e−05 |
| UK10K | 6.23e−07 | 3.00e−06 | 1.08e−05 | 4.20e−06 |
Abbreviations: AF, allele frequency; CA‐LALD, childhood/adult lysosomal acid lipase deficiency; CI, confidence interval; EVS, exome variant server; ExAC, exome aggregation consortium; gnomAD, Genome Aggregation Database; UK10K, the UK10K Project.