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Table 1 Bioinformatics predictions of deleteriousness on the two non-synonymous variants in NAGLU

From: “Genotype-first” approaches on a curious case of idiopathic progressive cognitive decline

  p.Y309C p.R565W
SIFT score 0 0
SIFT prediction Deleterious Deleterious
PolyPhen score 1 1
PolyPhen prediction Probably damaging Probably damaging
LRT score 0 0
LRT prediction Neutral Deleterious
Mutation Taster score 1 1
Mutation Taster prediction Disease causing Disease causing automatic
Mutation Assessor score 3.55 3.46
Mutation Assessor prediction High Medium
FATHMM score −6.27 −5.82
FATHMM prediction Deleterious Deleterious
MetaSVM score 1.05 1.05
MetaSVM prediction Deleterious Deleterious
MetaLR score 0.99 0.98
MetaLR prediction Deleterious Deleterious
Tute score 0.92 0.92
Tute prediction Deleterious Deleterious