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. 2020 May 21;106(6):818–829. doi: 10.1016/j.ajhg.2020.04.014

Figure 2.

Figure 2

Relationships between Molecular-Phenotype Scores and Quantitative Clinical Traits for Missense Variants

(A) Occipital frontal circumference (OFC, Z score) plotted as a function of continuous fitness score or abundance score for all individuals with missense variants. Males are shown as orange, and females are shown as maroon. The vertical dashed lines indicate the hypomorphic and truncation-like cutoffs at −1.11 and −2.15, respectively. The horizontal dashed line indicates the threshold for macrocephaly (Z score = 2.054). The solid lines indicate logarithmic curves fit to the data; mean squared error = 2.06 and 2.30 for fitness and abundance scores, respectively.

(B) Boxplot of OFC Z scores for all individuals with missense variants with fitness or abundance scores in the WT-like, hypomorphic, or truncation-like ranges. Fitness scores are Cohen’s r = 0.35 for truncation-like variants versus WT-like variants and Cohen’s r = 0.40 for hypomorphic variants versus WT-like variants. Abundance scores are Cohen’s r = 0.24 for truncation-like variants versus WT-like variants and Cohen’s r = 0.22 for hypomorphic variants versus WT-like variants.

(C) CC score for adults with missense variants as a function of continuous fitness or abundance scores. Analyses are restricted to adults because CC score is not valid for individuals under 18 years of age. The vertical dashed lines indicate the hypomorphic and truncation-like cutoffs at −1.11 and −2.15, respectively. The solid lines indicate linear curves fit to the data.

(D) Boxplot of CC scores for adults with missense variants with fitness or abundance scores in the WT-like, hypomorphic, or truncation-like ranges. Fitness scores are Cohen’s r = 0.44 for truncation-like variants versus hypomorphic variants, Cohen’s r = 0.70 for truncation-like variants versus WT-like variants, and Cohen’s r = 0.34 for hypomorphic variants versus WT-like variants. Abundance scores are Cohen’s r = 0.42 for truncation-like variants versus WT-like variants and Cohen’s r = 0.20 for hypomorphic variants versus WT-like variants. ∗p < 0.05, ∗∗p < 0.01, ∗∗∗p < 0.001.