Table 5.
Gene site | FS score | Functional category | Prediction tool | Prediction result |
---|---|---|---|---|
ALDH2 | 0.856 | Protein coding | PolyPhen | Probably damaging |
rs671 | SIFT | Damaging | ||
SNP effect | Benign | |||
LS-SNP | Benign | |||
SNPs3D | Deleterious | |||
Ensembl-NS | Nonsynonymous | |||
Splicing regulation | ESEfinder | Changed | ||
ESRSearchi | Changed | |||
PESX | Changed | |||
RESCUE_ESE | Changed | |||
Post translation | OGPET | Not exist | ||
Sulfinator | Not exist | |||
CYP2E1 | 0.398 | Transcriptional regulation | Ensembl-NS | Frameshift coding |
GoldenPath | Not exist | |||
Ensembl-TR | Regulatory region |
Abbreviation: FS, functional significance.