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Table 3 In silicon prediction of deleterious effect for p.S307C of ETFDH

From: Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

Tool

Results

Interpretation

PolyPhen-2

Probably damaging with a score of 1.000

Deleterious

SIFT

Median information content (MIC): 2.96

Low confidence of deleterious mutation with MIC above 3.25

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Lipids in Health and Disease

ISSN: 1476-511X