Table 2 In silico prediction of the TNC synonymous variant c.5247A > T
Tools | Outcome | Score | Interpretation |
|---|---|---|---|
Mutation Taster | Disease causing | 1 | Alteration within used splice site, likely to disturb normal splicing |
dbscSNV_AdaBoost | Likely pathogenic | 0.999 | Splice-altering |
dbscSNV_Random Forest | Likely pathogenic | 0.988 | Splice-altering |
NNSplice | / | 0.85 | Donor splicing site is missing |
NetGene2 | / | 0.88 | Donor splicing site is missing |