Table 2.

Functional prediction of AASs in Cx50 and PRKAG3.

Genes	AAS	MSAC score	PASE physicochemical score	PASEC score	SIFT	PolyPhen
Cx50	W45S	0.93	0.8	0.74	Deleterious	Possibly damaging
	G46V	0.93	0.56	0.52	Deleterious	Possibly damaging
PRKAG3	I199V	0.93	0.14	0.12	Tolerated	Benign
	R200Q	0.85	0.54	0.5	Deleterious	Probably damaging