REVEL score¶
REVEL is one of several computational predictors for rare missense variants, changes that replace one amino acid in a protein. It was described in 2016 and combines 13 existing prediction and conservation measures into one value. It can appear in variant-annotation tools and datasets alongside other evidence. A higher score means stronger computational concern that the change may affect the protein.
Score range¶
REVEL scores run from 0 to 1. Higher scores indicate stronger computational concern, but no single score is a diagnosis or a clinical classification.
| Score | Interpretation |
|---|---|
| Closer to 0 | Lower computational concern |
| Closer to 1 | Higher computational concern |
The original paper reports a sensitivity and specificity trade-off at different cutoffs. These are not universal clinical thresholds; a gene-specific expert panel or laboratory may use different evidence thresholds.
What REVEL combines¶
REVEL combines outputs from tools including SIFT, PolyPhen-2, MutationAssessor, MutationTaster, FATHMM, VEST, PROVEAN, LRT, GERP++, SiPhy, phyloP, phastCons, and MutPred. Because some of those tools use related evidence, do not count a high REVEL score and its component scores as independent proof.
When it applies¶
REVEL is designed for missense single-nucleotide variants. It does not assess the full meaning of splice, truncating, non-coding, structural, or insertion/deletion variants. It also does not account for the disease mechanism of a specific gene, family segregation, or the person's symptoms.
Where it may appear¶
REVEL may be reported by some variant-annotation tools and datasets. Whether it is shown, and how it is displayed, depends on that tool.