Extended Data Table 3 Curation of pLoF variation in six neurodegenerative disease genes

From: Evaluating drug targets through human loss-of-function genetic variation

  1. Shown are the coding sequence length (base pairs, bp), constraint value (pLoF obs/exp) after filtering and curation, cumulative allele frequency before and after filtering and manual curation, estimated frequency of true pLoF heterozygotes in the population, and genetic prevalence (population frequency including pre-symptomatic individuals) of the GoF disease associated with the gene. Genetic prevalence calculations are described in Extended Data Table 4, and variant curation details are provided in Supplementary Table 1, except for LRRK2, which is described in detail elsewhere49.
  2. aConstitutive brain-expressed exons only.
  3. bPRNP codons 1–144; see Fig. 3c for rationale.
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