Table 1 Possible prediction results of SNPs using software tools in the GABRA1 gene
SNP Number | rs121434579 | rs139163545 | rs267600530 |
|---|---|---|---|
Nucleotide change | C > A | C > A/C > T | C > T |
Amino acid change | A322D | R147W | S303F |
SIFT result | Damaging | Damaging | Damaging |
SIFT score | 0.027 | 2.45 | 0.001 |
PolyPhen-2 HumDiv result | Probably damaging | Probably damaging | Probably damaging |
PolyPhen-2 HumDiv score | 0.999 | 1.000 | 1.000 |
PolyPhen-2 HumVar results | Probably damaging | Probably damaging | Probably damaging |
PolyPhen-2 HumVar score | 0.992 | 1.000 | 0.092 |
PROVEAN results | Deleterious | Deleterious | Deleterious |
PROVEAN score | − 4.785 | − 7.295 | − 5.469 |
SNP&GO results | Disease | Disease | Disease |
SNP&GO score | 8 | 8 | 7 |
SNAP2 results | Effect | Effect | Effect |
SNAP2 score | 64 | 86 | 38 |
SNAP2 accuracy rate | %80 | %91 | %66 |
PHD-SNP results | Disease | Disease | Disease |
PHD-SNP RI score | 8 | 9 | 7 |
PANTHER results | Probably damaging | Probably damaging | Probably damaging |
META-SNP results | Disease | Disease | Disease |
META-SNP score | 0.85 | 0.85 | 0.74 |
META-SNP confidence value | 6 | 6 | 5 |
I-Mutant result | Decrease | Decrease | Increase |
I-Mutant Reliability Index | 4 | 4 | 5 |
I-Mutant DDG value | − 0.75 | − 0.32 | 0.21 |
MUpro result | Decrease | Decrease | Increase |
MUpro score | − 0.76389212 | − 10.569.948 | 0.22722624 |