Table 3 The Predicted results of the pathogenicity assessment of four unannotated variants
Prediction | ClinVar | Polyphen2 | SIFT | MutationTaster | MutationAssessor | FATHMM | CADD score |
|---|---|---|---|---|---|---|---|
p.Asn1623Ser 14:23885298 T/C Exon 34 | Uncertain significance | Possibly damaging | Damaging | Damaging | Functional (medium) | Tolerated | Likely deleterious |
p.Arg1588His 14:23885403 C/T Exon 34 | Probably damaging | Damaging | Damaging | Functional (high) | Tolerated | Deleterious | |
.Phe1498Tyr 14:23886388 A/T Exon 32 | Possibly damaging | Damaging | Damaging | Non-functional (low) | Tolerated | Likely deleterious | |
p.Arg1129Ser 14:23889393 C/G Exon 27 | Probably damaging | Damaging | Damaging | Functional (high) | Damaging | Likely deleterious |