Table 3. PolyPhen2 HumVar results of familial missense variants in PRSS56.
Mutation | Result | Score | Sensitivity | Specificity |
---|---|---|---|---|
R176G |
Possibly Damaging |
0.522 |
0.82 |
0.81 |
G237R* |
Probably Damaging |
0.940 |
0.64 |
0.92 |
V302F* |
Benign |
0.480 |
0.83 |
0.80 |
W309S |
Probably Damaging |
0.989 |
0.48 |
0.96 |
G320R* |
Probably Damaging |
0.991 |
0.45 |
0.97 |
C395R* |
Probably Damaging |
0.923 |
0.66 |
0.91 |
P599A | Benign | 0.001 | 0.99 | 0.08 |
*Denotes variants observed in the present study.