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Table 3 The Predicted results of the pathogenicity assessment of four unannotated variants

From: Prediction and in silico validation of MYH7 gene missense variants in the Iranian population: a bioinformatics analysis based on Iranome database

PredictionClinVarPolyphen2SIFTMutationTasterMutationAssessorFATHMMCADD score
p.Asn1623Ser 14:23885298 T/C
Exon 34
Uncertain significancePossibly damagingDamagingDamagingFunctional (medium)ToleratedLikely deleterious
p.Arg1588His 14:23885403 C/T
Exon 34
 Probably damagingDamagingDamagingFunctional (high)ToleratedDeleterious
.Phe1498Tyr 14:23886388 A/T
Exon 32
 Possibly damagingDamagingDamagingNon-functional (low)ToleratedLikely deleterious
p.Arg1129Ser 14:23889393 C/G
Exon 27
 Probably damagingDamagingDamagingFunctional (high)DamagingLikely deleterious