Table 2.
Pathogenicity prediction of PDE11A variants
| Variant | SIFT | PolyPhen2 HDIV | Polyphen2 HVAR | LRT | Mutation Taster | DANN | CADD | M -CAP | PROVEAN | VEST3 | fathmm-MKL | GERP++ | SiPhy | phast Cons100way vertebrates | phylo P100way vertebrates |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.G605A (p.Arg202His) | Damaging (0.028) | Probably damaging (0.997) | Possibly damaging (0.792) | Deleterious (0.000071) | Disease causing (1) | 0.998 | 6.96 | Damaging (0.027) | Damaging (−3.92) | 0.821 | Deleterious (0.986) | Conserved (4.34) | 14.443 | Highly conserved (1) | Conserved (5.622) |
| c.T2267A (p.Leu756Gln) | Damaging (0.001) | Probably damaging (0.996) | Probably damaging (0.943) | Deleterious (0) | Disease causing (1) | 0.995 | 6.12 | Damaging (0.174) | Damaging (−4.71) | 0.952 | Deleterious (0.945) | Conserved (5.57) | 15.739 | Highly conserved (1) | Conserved (8.857) |