Table 2 List of the completely deleterious variants observed in the human LEP gene by extensive prediction approach
| Â | Â | Amino acid substitution (SNP ID) | ||
|---|---|---|---|---|
Tool | Parameter | D76V (rs1332916395) | C117S (rs1051206328) | L161R (rs771956117) |
SIFT | Score | 0 | 0 | 0 |
| Â | Prediction | Deleterious | Deleterious | Deleterious |
PolyPhen2 | Score | 1.000 | 1.000 | 1.000 |
| Â | Prediction | Probably damaging | Probably damaging | Probably damaging |
REVEL | Score | 0.648 | 0.777 | 0.771 |
| Â | Prediction | Deleterious | Deleterious | Deleterious |
MetaLR | Score | 0.569 | 0.839 | 0.509 |
| Â | Prediction | Deleterious | Deleterious | Deleterious |
PROVEAN | Score | -5.78 | -8.46 | -4.03 |
| Â | Prediction | Deleterious | Deleterious | Deleterious |
PANTHER | Score | 220 | 220 | 220 |
| Â | Prediction | Probably damaging | Probably damaging | Probably damaging |
SNAP2 | Score | 70 | 72 | 81 |
| Â | Prediction | Effect | Effect | Effect |
SNPs&Go | Score | 7 | 7 | 1 |
| Â | Prediction | Disease | Disease | Disease |
PhD SNP | Score | 5 | 5 | 3 |
| Â | Prediction | Disease | Disease | Disease |
CUPSAT | Score (kcal/mol) | -1.5 | -1.71 | -2.91 |
| Â | Prediction | Decrease stability | Decrease stability | Decrease stability |