Table 1. Cumulative prediction of possible deleterious nsSNPs.
| S. No | SNP✝ | Amino acid change | Ployphen | PANTHER SubPSEC | PROVEAN score | Prediction (Cutoff = -2.5) | mCSM score (ΔΔG) | SNAP2 Score | SNPs&GO |
|---|---|---|---|---|---|---|---|---|---|
| 1 | rs28928878 | G60V* | 0.969 | -3.68979 | -8.355 | Deleterious | -0.163 | 67 | 0.815 |
| 2 | rs35210126 | K17M | 0.615 | -4.33503 | -5.606 | Deleterious | 0.16 | 17 | 0.718 |
| 3 | rs35210126 | K17T | 0.615 | -3.36061 | -5.575 | Deleterious | -0.308 | 28 | 0.824 |
| 4 | rs17407508 | L92F | 0.997 | -5.74786 | -3.47 | Deleterious | -0.912 | 41 | 0.742 |
| 5 | rs33964317 | W15R* | 0.985 | -3.32531 | -12.664 | Deleterious | -2.276 | 77 | 0.853 |
Protein ID: NP_000508
✝The listed 5 nsSNPs are predicted as DAMAGING or deleterious or effect and agreed by PolyPhen, Panther, SNPs&Go, Provean.
* The highly pathogenic nsSNPs were agreed unanimously by all the tools with the scores: PolyPhen >0.9; Panther >0.55; SNPs&Go >0.8; SIFT = 0; Provean < -8; mCSM < -0.1; SNAP2 >65.