Variant scores

REVEL score

REVEL predicts the pathogenicity of missense variants by combining 13 existing predictor scores.

What REVEL predicts

REVEL is an ensemble score for rare missense variants. It combines outputs from 13 tools, including SIFT, PolyPhen-2, MutationAssessor, MutationTaster, FATHMM, VEST, PROVEAN, LRT, GERP++, SiPhy, phyloP, phastCons, and MutPred.

Score range

REVEL scores run from 0 to 1. Higher values mean the model predicts a greater chance that the missense variant harms protein function. The Gene Inspector help guide uses a score higher than 0.5 as a practical review threshold.

Strengths and limits

REVEL is useful when you need a single combined signal from older missense predictors. The published REVEL score set was calculated in 2016, so treat it as a fixed annotation and check it with current population, ClinVar, and case context.

In Gene Inspector Pro

Gene Inspector Pro shows REVEL next to other predictor values. Use it with consequence, allele frequency, ClinVar status, genotype quality, source evidence, and the question being reviewed.