Table 1 GnomAD gene constraint for NPC1.

From: Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1

Category

Expected No. variants

Observed No. variants

Constraint metrics

Synonymous

290.7

314

Z = − 1.07

o/e = 1.08 (0.98–1.19)

Missense

719.4

637

Z = 1.09

o/e = 0.89 (0.83–0.94)

LOF

62.2

21

pLI = 0.00

o/e = 0.34 (0.43–0.49)

  1. o/e observed/expected score, LOF loss of function, pLI probability of being loss-of-function intolerant.
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