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. 2015 Mar 18;24(1):78–85. doi: 10.1038/ejhg.2015.55

Table 2. Variant predictions for identified SMCHD1 missense variants.

	c.3538G>A, p.Gly1180Arg	c.2941T>G, p.Tyr981Asp	c.5596C>G, p.Arg1866Gly
Conservation (PhyloP)	Moderate (4.16)	Moderate (2.38)	Weak (1,09)
Grantham distance	Moderate (125)	Large (160)	Moderate (125)
Align GVGD	C15 (GV: 206.04–GD: 124.98)	C65 (GV: 0.00–GD: 159.94)	C65 (GV: 0.00–GD: 125.13)
SIFT	Deleterious (Score: 0)	Deleterious (Score: 0)	Deleterious (Score: 0)
Mutation taster	Disease causing (P-value: 0.999)	Disease causing (P-value: 0.689)	Disease causing (P-value: 0.882)