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

<div>A high proportion of LoF and GoF variants meets author-recommended thresholds for pathogenicity. A graph showing the cumulative frequency of loss-of-function (LoF) and gain-of-function (GoF) variants which meet that REVEL score threshold. The REVEL score thresholds of 0.5 and 0.75 are highlighted as they were given by the tool authors as potential thresholds for pathogenicity [<a href="/journals/humu/2023/8857940/#B4">4</a>].</div>

Human Mutation

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Figure 1

Figure 1: REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants 