Table 1.
References | Dataset | Description | ND | NB |
---|---|---|---|---|
Grimm et al.1 | HumVar | Disease-causing mutations from UniProtKB and common single nucleotide polymorphisms with major allele frequency > 1%1 | 1230 | 1230 |
Total | 1230 | 1230 | ||
Mahmood et al.2 | UniFun | Deleterious and benign variants in UniProt which are derived from functional assays2 | 25 | 25 |
BRCA1-DMS | Deleterious and benign variants derived from deep mutational scanning experiment measuring homology-directed DNA repair and tumor suppression activity2 | 41 | 41 | |
TP53-TA | Deleterious and benign variants derived from transactivation assay2 | 413 | 413 | |
Total | 479 | 479 | ||
Total | 1709 | 1709 |
ND stands for the number of deleterious variants, and NB stands for the number of benign variants.