Table 2 The interpreted results of the risk assessment of various reported changes
Variant | ClinVar | SIFT | Polyphen2 | MutationTaster |
|---|---|---|---|---|
p.Ala26Val | Benign | Tolerated | Benign | Damaging |
p.Pro211Leu | Uncertain significance | Damaging | Benign | Tolerated |
p.Arg787His | Uncertain significance | Tolerated | Benign | Tolerated |
p.Val964Leu | Conflicting interpretations of pathogenicity | Damaging | Probably damaging | Damaging |
p.Ala1191Thr | – | Tolerated | Benign | Damaging |
p.Asn1257Ser | Benign | Tolerated | Benign | Damaging |
p.Arg1277Gln | Uncertain significance | Damaging | Benign | Damaging |
p.Ser1366Leu | – | Damaging | Benign | Damaging |
p.Ser1491Cys | Benign | Damaging | Benign | Damaging |
p.Ser1596Leu | – | Damaging | Benign | Damaging |
p.Ala1603Thr | Uncertain significance | Damaging | Possibly damaging | Damaging |
p.Arg1662His | Uncertain significance | Tolerated | Benign | Tolerated |
p.Asn1824Asp | – | Tolerated | Benign | Damaging |
p.Asn1824Ser | Uncertain significance | Tolerated | Benign | Damaging |