Table 1.
Summary of intolerance scores and conservational scores.
| Tools | Details | Score Range | Significant score | Ref. |
|---|---|---|---|---|
| Residual Variation Intolerance Score (RVIS) RVIS - NHLBI-ESP6500 data set |
based upon allele frequency data | Negative to Positive | RVIS < 0 - intolerant RVIS > 0 - tolerant |
60 |
| RVIS - ExAC data set | ||||
| RVIS - local data set | ||||
| pLI score | Developed by ExAC Consortium for Loss-of-Function (LoF) mutations | pLI ≥ 0.9 - highly LoF-intolerant pLI ≤ 0.1 - LoF tolerant |
15 | |
| Z-score | Developed by ExAC Consortium for missense and synonymous variants | Positive Z scores –intolerant Negative Z scores -tolerant |
15 | |
| Genomic Evolutionary Rate Profiling (GERP) | −12.3 to 6.17 | >2 | 61 | |
| PhastCons | 0 to 1 | >0.3 | 62 | |
| Phylogenetic P-value (PhyloP) | −14 to +6 | ≥3.0 | 63 |