Collaborator: Addenbrooke’s Treatment Centre, Cambridge University Hospitals NHS Trust

• Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants

  Abstract Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li–Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align‐GVGD tool used for p53 missense variant prediction, and compare its performance to other bioinformatic tools (SIFT, PolyPhen‐2) and ensemble…