AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis cases

Affiliations

¹ Department of Surgery, University of California Los Angeles, Los Angeles, California, USA.
² Department of Pediatric Gastroenterology and Hepatology, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
³ Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan.
⁴ Paediatric Nutritional Medicine, Else Kröner-Fresenius Zentrum für Ernährungsmedizin (EKFZ), Technische Universität München (TUM), Freising, Germany.
⁵ Ariel Precision Medicine, Pittsburgh, Pennsylvania, USA.
⁶ Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200, Brest, France.
⁷ Center for Gastroenterology, Department of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
⁸ Hungarian Centre of Excellence for Molecular Medicine, Translational Pancreatology Research Group, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
⁹ Department of Surgery, Boston University, Boston, Massachusetts, USA.
¹⁰ Stead Family Department of Pediatrics and Department of Radiation Oncology, University of Iowa, Iowa City, Iowa, USA.
¹¹ Department of Surgery, University of California Los Angeles, Los Angeles, California, USA msahintoth@mednet.ucla.edu.

Máté Sándor et al. Gut. 2025.

. 2025 Mar 6;74(4):678-679.

doi: 10.1136/gutjnl-2024-333697.

¹ Department of Surgery, University of California Los Angeles, Los Angeles, California, USA.
² Department of Pediatric Gastroenterology and Hepatology, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
³ Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan.
⁴ Paediatric Nutritional Medicine, Else Kröner-Fresenius Zentrum für Ernährungsmedizin (EKFZ), Technische Universität München (TUM), Freising, Germany.
⁵ Ariel Precision Medicine, Pittsburgh, Pennsylvania, USA.
⁶ Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200, Brest, France.
⁷ Center for Gastroenterology, Department of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
⁸ Hungarian Centre of Excellence for Molecular Medicine, Translational Pancreatology Research Group, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
⁹ Department of Surgery, Boston University, Boston, Massachusetts, USA.
¹⁰ Stead Family Department of Pediatrics and Department of Radiation Oncology, University of Iowa, Iowa City, Iowa, USA.
¹¹ Department of Surgery, University of California Los Angeles, Los Angeles, California, USA msahintoth@mednet.ucla.edu.

No abstract available

Keywords: CHRONIC PANCREATITIS; GENETIC TESTING; PANCREATIC DISORDERS.

Conflict of interest statement

Competing interests: None declared.

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