D76V, L161R, and C117S are the most pathogenic amino acid substitutions with several dangerous consequences on leptin structure, function, and stability

Egyptian Journal of Medical Human Genetics

Table 3 MutPred prediction for the most deleterious missense variants observed in LEP gene

Variant	MutPred2 score	Remarks	Affected PROSITE and ELM Motifs
D76V	0.436	–	–
C117S	0.735	-	ELME000063
	Molecular mechanisms with P values ≤ 0.05	Probability	P value
	Altered metal binding	0.39	6.9e–03
L161R	0.720	–	ELME000106, ELME000136, ELME000159
	Molecular mechanisms with P values ≤ 0.05	Probability	P value
	Gain of intrinsic disorder	0.36	0.02
	Altered stability	0.21	0.01
	Altered transmembrane protein	0.14	0.02