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

<div>LoF variants are more likely to meet the threshold for strong evidence 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 for supporting, moderate, and strong evidence are highlighted as recommended by Pejaver et al. [<a href="/journals/humu/2023/8857940/#B2">2</a>].</div>

Human Mutation

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Figure 2

Figure 2: REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants 