PrimateAI-3D outperforms AlphaMissense in real-world cohorts

Accurately predicting the impact of genetic variants is essential for interpreting genomic data, yet no consensus exists on how to measure classifier performance. We prepared the most comprehensive set of benchmarks to date and applied them to the recently published models PrimateAI-3D and AlphaMissense. PrimateAI-3D outperforms AlphaMissense on rare-disease cohort and biobank benchmarks, indicating that performance on clinical databases or in vitro assays does not reliably generalize to real-world cohorts.