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Classifying the effects of missense variants using AlphaMissense

AlphaMissense is a new tool, based on AlphaFold2 but separate from it. It can predict whether a missense variant is likely to be pathogenic. Like AlphaFold2, AlphaMissense supplies confidence metrics to enable careful interpretation of its predictions.

By the end of this section, you will be able to:

  • Understand the significance of missense variants for biomedical research
  • Understand how to use AlphaMissense to explore whether or not a missense variation is likely to be pathogenic
  • Critically interpret AlphaMissense predictions using both confidence metrics and an understanding of the scores limitations