Research Article
A Novel Variant in VPS13B Underlying Cohen Syndrome
Table 2
Bioinformatic prediction results for
VPS13B c.8841G > A: p.(W2947
).
| | Bioinformatic tool | Prediction | Score | Prediction range |
| | MutationTaster | Disease causing | 1 | 0-1 (close to 1 indicating disease causing) | | FATHM-MKL | Damaging | 0.998 | 0-1 (close to 1 indicating damaging) | | DANN | Damaging | 0.996 | 0-1 (close to 1 indicating damaging) | | LRT-Pred | Deleterious | 0.860 | 0-1 (close to 1 indicating deleterious) | | CADD | Deleterious | 45 | 1-99 (>20 deleterious) | | GERP | Deleterious | 5.98 | >4 highly conserved (deleterious) | | VEST4 | Mutated | 0.861 | 0-1 (close to 1 indicating the functional mutation |
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