Table 2.
Predicted pathogenicity of missense ANKRD11 variants generated using Alamut
| Sample | Protein change (ANKRD11 NM013275.5) | Predicted pathogenicity | ||||
|---|---|---|---|---|---|---|
| SIFT (score) | PolyPhen-2 | MutationTaster | CADD | SVM score (%) | ||
| EX24 | p.Ile2427Thr | Deleterious | Probably damaging | Disease causing | 25.3 | 21.5 |
| EX25 | p.Lys459Asn | Deleterious | Probably damaging | Disease causing | 25.7 | 21.0 |
| EX26 | p.Thr236Met | Deleterious | Probably damaging | Disease causing | 29.4 | 68.0 |
| EX27a | p.Thr236Met | Deleterious | Probably damaging | Disease causing | 29.4 | 51.0 |
aMother of EX26