Table 1 Pathogenicity assessment in silico of TBC1D24: c.1459C>T (p.His487Tyr).
From: Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
| Â | SIFT | GERP | Mutation Taster | Mutpred | Revel | CADD | DANN |
|---|---|---|---|---|---|---|---|
Scores | 0.008 | 5.49 | 1 | 0.679 | 0.31 | 23.0 | 1 |
Pathogenicity | Uncertain | Uncertain | Deleterious | Pathogenic supporting | Uncertain | Deleterious | Deleterious |
