Table 5 The functional analysis of missense variants using PolyPhen-2, SNAP2, Mutationassessor, FATHMM, and Mutationtaster.
SNVs ID | Gene | AA change | PolyPhen-2 | SNAP2 | FATHMM | Mutation taster | Mutationassessor | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Score | Predicted effect | Score | Predicted effect | Coding Score | Predicted effect | Prob | Predicted | Func.Impact | FI score | |||
rs1805123 | KCNH2 | K897T | 0 | Benign | -53 | Neutral | 0.760 | pathogenic | 0.205 | polymorphism | low | 1.735 |
rs1065852 | CYP2D6 | P34A | 0.953 | Deleterious | 60 | Effect | 0.820 | pathogenic | 0.999 | disease causing | high | 4.080 |
