Table 2.
Prediction scores of the new detected variants in DDB2 and ERCC4 genes.
| Gene | Variant | Prediction tools | Score | Significance |
|---|---|---|---|---|
| DDB2 | c.613T>C; p.C205R | Mutation taster | 0.99 | Disease causing |
| Polyphen | 1 | Probably damaging | ||
| SIFT | 2.77 | damaging | ||
| M-CAP | 0.066 | Possibly damaging | ||
| Provean | −6.13 | deleterious | ||
| MUpro | −1.40 | Decrease stability | ||
| DDB2 | c.618C>A; p.S206R | Mutation taster | 0.99 | Disease causing |
| Polyphen | 1 | Probably damaging | ||
| SIFT | 2.78 | damaging | ||
| M-CAP | 0.05 | Possibly damaging | ||
| Provean | −2.9 | deleterious | ||
| MUpro | −1.05 | Decrease stability | ||
| ERCC4 | c.1762G>T; p.V588P | Mutation taster | 0.99 | Disease causing |
| Polyphen | 1 | Probably damaging | ||
| SIFT | 2.8 | damaging | ||
| M-CAP | 0.177 | Possibly damaging | ||
| Provean | −5.69 | deleterious | ||
| MUpro | −1.64 | Decrease stability |