Table 3.

Predicted amino acid location and functional impact of CES1 variants found in WES of iPAH and METH-PAH patients

		Allele Frequency, %
CES1 SNV	Predicted Allele Frequency, %	PAH	METH-PAH	Function	AA Switch	AA Position
rs115629050	3.1	0	94.4	Missense	Ala→Ser	270
rs3826193	35.6	64	94.4	Missense	Ile→Val	50
rs3826192	32.6	64	94.4	Missense	Val→Ile	39
rs62028647	42	72.7	0	Missense	Ser→Leu	82
rs2307240	5	9	0	Missense	Ser→Asn	75

CES1, carboxylesterase 1.