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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