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Table 2 Evaluation of possible impact of c.3953A > G, p.N1318S mutation of SCN8A by different bioinformatic prediction tools

From: A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

Tools

PolyPhen2

CADD

SIFT

Mutation Taster

Prediction

Score

Prediction

Score (cutoff = 12.37)

Prediction

Score (cutoff = 0.05)

Prediction

Probability

p.N1318S

Damaging

1.000

Deleterious

23.2

Deleterious

0.000

Disease causing

1