Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.

Consistent with this hypothesis, there was a moderately strong, but highly significant, correlation (Spearman rank correlation = 0.47, p < 7.2 x 10 −22 , S5 Fig ) between the ConSurf score for a residue and the median yeast assay score for substitutions at that site, with more conserved residues displaying lower median growth.

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