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Table 3 Pathogenicity Assessment in Silico of ACTG1 c.638A > G (p.K213R)

From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

Tools Pathogenicity Functional Prediction Scores/Conservation scores
SIFT Damaging 0
PolyPhen Probably damaging 0.947
MutationTaster Disease causing 0.999324
MutationAssessor Deleterioius 4.105
LRT Deleterioius 0
FATHMM Deleterioius −4.81
GERP+   4.56
PhyloP Not conserved 1.72
SiPhy   12.999
GERP   4.56
phastCons Conserved 1