Table 2.
Analysis of De Novo Variants by SIFT and PolyPhen-2
| Interpretation |
SIFT |
PolyPhen-2 |
||
|---|---|---|---|---|
| Affected Subjects | Control Subjects | Affected Subjects | Control Subjects | |
| Benign or tolerated | 2,608 (31.2%) | 343 (35.7%) | 1,426 (17.1%) | 214 (22.3%) |
| Deleterious, probably damaging, or possibly damaging | 2,242 (26.8%) | 283 (29.5%) | 3,157 (37.8%) | 403 (42.0%) |
| Unknown | 3,496 (42.0%) | 333 (34.8%) | 3763 (45.1%) | 342 (35.7%) |
| Total | 8,346 | 959 | 8,346 | 959 |
| p value (compared to control subjects)a | 0.64 | 0.08 | ||
a
p values were calculated with a two-sided Fisher’s exact test.