Table 5.
Assessment of the effect of different variants as provided by the SIFT and PolyPhen algorithms showing disagreement: While for variants one and two only one program calculates a score resembling the (true) clinical findings, variant three is corroborated by both programs and agrees with the clinical findings
| rsID | SIFT | PolyPhen | Clinical evidence |
|---|---|---|---|
| rs104894359 | 0 | 0.361 | Pathogenic |
| rs121913529 | 0 | 1 | Pathogenic |
| rs1137282 | 0.85 | 0.012 | Benign |
| Legend: | |||
| SIFT: | 0 (deleterious) - 1 (tolerated) | ||
| PolyPhen: | 0 (benign) - 1 (probably damaging) | ||