Table 2.
Algorithm | c.910C>T:p.Arg304Cys (predicted value) | c.994G>T:p.Glu332X (predicted value) |
---|---|---|
SIFT | Damaging (0.001) | NA |
LRT | Deleterious (0) | Neutral (0.004) |
MutationTaster | Disease-causing (1) | Disease-causing (1) |
PROVEAN | Damaging (−4.63) | NA |
CADD | Damaging (25.2) | Damaging (41) |
DANN | Damaging (0.999) | Damaging (0.996) |
GenoCanyon | Damaging (1) | Damaging (1) |
fitCons | Damaging (0.706) | Damaging (0.706) |
ClinPred | Pathogenic (0.88554954) | NA |
NA: not available; SIFT: sorting intolerant from tolerant; LRT: likelihood ratio test; PROVEAN: protein variation effect analyzer; CADD: combined annotation dependent depletion; DANN: deleterious annotation of genetic variants using neural networks