REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

ABSTRACT: In silico predictive tools can help determine the pathogenicity of variants. The 2015 American College of Medical Genetics and Genomics (ACMG) guidelines recommended that scores from these tools can be used as supporting evidence of pathogenicity. A subsequent publication by the ClinGen Sequence Variant Interpretation Working Group suggested that high scores from some tools were sufficiently predictive to be used as moderate or strong evidence of pathogenicity. REVEL is a widely used metapredictor that uses the scores of 13 individual in silico tools to calculate the pathogenicity of missense variants. Its ability to predict missense pathogenicity has been assessed extensively; however, no study has previously tested whether its performance is affected by whether the missense variant acts

SUBMITTER: Hopkins JJ 

PROVIDER: S-EPMC11918948 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature