Fig. 3: ESM1b scores are predictive of disease severity for missense variant carriers. | Nature Communications

Fig. 3: ESM1b scores are predictive of disease severity for missense variant carriers.

From: Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Fig. 3: ESM1b scores are predictive of disease severity for missense variant carriers.

Single missense variant carriers for MC4R (A, B), LDLR (C), PCSK9 (D), APOA5 (E), LPL (F), and GCK (G) were identified and mean phenotype per each missense carrier group was measured. p values shown are generated from mean phenotype-ESM1b score two-sided Pearson correlation tests and adjusted for age, sex, and first 10 genetic PCs. ESM1b scores also distinguish gain- vs. loss-of-function variants (A), which is replicated in Mt. Sinai’s BioMe biobank (B).

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