SNP number | rs78196007 | rs78196007 | rs17850679 | rs72708067 | rs111596597 | rs149963014 |
---|---|---|---|---|---|---|
Nucleotide change | G > A/G > T | G > A/G > T | T > A | T > C | A > G | T > C |
Amino acid change | T156I | T85I | Q173L | M80V | I213T | Y324C |
SIFT results | Damaging | Damaging | Damaging | Damaging | Damaging | Damaging |
SIFT score | 0 | 0.001 | 0 | 0.004 | 0.001 | 0 |
PolyPhen-2 HumDiv Results | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging |
PolyPhen-2 HumDiv Score | 1.000 | 1.000 | 1.000 | 1.000 | 0.998 | 1.000 |
PolyPhen-2 HumVar Results | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging |
PolyPhen-2 HumVar Score | 0.990 | 0.998 | 0.999 | 0.984 | 0.989 | 0.998 |
PROVEAN results | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious |
PROVEAN score | − 5.254 | − 5.403 | − 6.396 | − 3.004 | − 4.234 | − 8.181 |
SNP&GO results | Disease | Disease | Disease | Disease | Disease | Disease |
SNP&GO score | 7 | 9 | 9 | 8 | 4 | 6 |
SNAP2 results | Effect | Effect | Effect | Effect | Effect | Effect |
SNAP2 score | 61 | 69 | 53 | 50 | 57 | 47 |
SNAP2 Accuracy rate | 80% | 80% | 75% | 75% | 75% | 71% |
PHD-SNP results | Disease | Disease | Disease | Disease | Disease | Disease |
PHD-SNP RI score | 1 | 3 | 9 | 7 | 2 | 8 |
PANTHER results | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging | Probably damaging |
META-SNP results | Disease | Disease | Disease | Disease | Disease | Disease |
META-SNP score | 0.85 | 0.78 | 0.85 | 0.85 | 0.74 | 0.85 |
META-SNP confidence value | 5 | 6 | 7 | 7 | 3 | 7 |
I-Mutant result | Decrease | Decrease | Increase | Decrease | Decrease | Decrease |
I-Mutant Reliability Index | 5 | 0 | 1 | 8 | 9 | 4 |
I-Mutant DDG value | − 0.11 | − 0.12 | − 0.06 | − 1.00 | − 2.25 | − 1.16 |
MUpro result | Decrease | Increase | Decrease | Decrease | Decrease | Decrease |
MUpro score | − 0.20622366 | 0.030569622 | − 0.34506944 | − 1.487.868 | − 19.379.582 | − 11.142.667 |