Table 2.
Prediction of functional effect of missense variants in FGFR1 using the Align-GVGD program.
| Variant | A-GVDV |
||
|---|---|---|---|
| GV | GD | Prediction class | |
| P23L | 73.35 | 97.78 | Class C15 |
| P25L | 102.71 | 56.87 | Class C0 |
| P28L | 0.00 | 97.78 | Class C65 |
| G48S | 0.00 | 55.27 | Class C55 |
| R54H | 0.00 | 28.82 | Class C25 |
| D59V | 0.00 | 152.22 | Class C65 |
| G70R | 0.00 | 125.13 | Class C65 |
| A74V | 65.28 | 0.00 | Class C0 |
| V88L | 0.00 | 30.92 | Class C25 |
| A94E | 0.00 | 106.71 | Class C65 |
| V102I | 0.00 | 28.68 | Class C25 |
| S107L | 144.08 | 0.00 | Class C0 |
| S125L | 0.00 | 144.08 | Class C65 |
| D128A | 0.00 | 125.75 | Class C65 |
| A167S | 0.00 | 99.13 | Class C65 |
| W213G | 0.00 | 183.79 | Class C65 |
| G237S | 0.00 | 55.27 | Class C55 |
| V248M | 0.00 | 20.52 | Class C15 |
| R250Q | 0.00 | 42.81 | Class C35 |
| P252T | 0.00 | 37.56 | Class C35 |
| P252R | 0.00 | 102.71 | Class C65 |
| L261F | 0.00 | 21.82 | Class C15 |
| I300T | 0.00 | 89.28 | Class C65 |
| N330I | 0.00 | 148.91 | Class C65 |
| L342S | 0.00 | 144.08 | Class C65 |
| P366L | 0.00 | 97.78 | Class C65 |
| Y374C | 0.00 | 193.72 | Class C65 |
| C381R | 0.00 | 179.53 | Class C65 |
| R424H | 0.00 | 28.82 | Class C25 |
| R470L | 0.00 | 101.88 | Class C65 |
| V513G | 0.00 | 189.55 | Class C65 |
| V607M | 0.00 | 12.52 | Class C15 |
| P722S | 0.00 | 193.35 | Class C65 |
| Q764H | 0.00 | 24.08 | Class C15 |
| L767R | 0.00 | 101.88 | Class C65 |
| L769V | 0.00 | 30.92 | Class C25 |
| P772S | 0.00 | 73.35 | Class C65 |
| R822C | 0.00 | 179.53 | Class C65 |
A-GVGD graded classifiers, ordered from most likely to interfere with function to least likely:
- GD >= 65 + tan(10) × (GV^2.5) = > Class C65 < = > most likely.
- GD >= 55 + tan(10) × (GV^2.0) = > Class C55.
- GD >= 35 + tan(50) × (GV^1.1) = > Class C35.
- GD >= 25 + tan(55) × (GV^0.95) = > Class C25.
- GD >= 15 + tan(75) × (GV^0.6) = > Class C15.
- Else (GD < 15 + tan(75) × (GV^0.6)) = > Class C0 < = > less likely.