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Table 2 In silico analysis with predictive software

From: Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome

 

SIFT

MAPP

MutationTaster2

PolyPhen-2

CADD

REVEL

Predicted value

D

D

D

D

31

0.762

  1. D Damaging, Align GVGD Grantham Variation/Grantham Deviation, SIFT Sorting Tolerant From Intolerant, MAPP Map Annotator and Pathway Profiler, CADD Combined Annotation Dependent Depletion, REVEL Rare Exome Variant Ensemble Learner
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BMC Ophthalmology

ISSN: 1471-2415

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