A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter

Table 1

Results of in silico mutation prediction analysis.

Algorithm	Prediction	Score
PolyPhen2^a	Probably damaging (HumDiv- model)	0.998
PolyPhen2^a	Probably damaging (HumVar- model)	0.980
Provean^b	Deleterious	−4.92
SIFT^c	Damaging	0.032
MutationTaster^d	Disease causing	0.999

^ahttp://genetics.bwh.harvard.edu/pph2; deleterious threshold >0.5. ^bhttp://provean.jcvi.org/index.php; score threshold is −2.5 for binary classification. ^chttp://sift.jcvi.org/www/SIFT_chr_coords_submit.html threshold <0.05. ^dhttp://www.mutationtaster.org; scores range from 0.0 to 1.0.