Table 2.
(i) BRCA1 | |||
Variant | True classification | MutPred score | MutPred2 score |
| |||
p.Cys39Phe | deleterious | 0.99 | 0.76 |
p.Tyr777Asp | benign | 0.54 | 0.54 |
p.Ile1275Val | benign | 0.20 | 0.02 |
p.Asp1546Glu | benign | 0.11 | 0.03 |
(ii) BRCA2 | |||
Variant | True classification | MutPred score | MutPred2 score |
| |||
p.Val211Leu | deleterious | 0.24 | 0.29 |
p.Ile975Ser | deleterious | 0.37 | 0.34 |
p.Arg2336Hisa | deleterious | 0.69 | 0.15 |
p.Val3079Ile | deleterious | 0.58 | 0.09 |
p.Leu2368Val | benign | 0.19 | 0.09 |
p.Glu2956Ala | probably benign | 0.23 | 0.18 |
p.Pro3243Leu | probably benign | 0.35 | 0.21 |
Present in both predictors’ training sets as a pathogenic variant