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MAVISp: A modular structure-based framework for protein variant effects
Matteo Arnaudi1,2, Mattia Utichi1,2, Kristine Degn1,2
1Cancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Protein Science : a Publication of the Protein Society
|April 7, 2026
Summary
MAVISp is a new structural framework that assesses the effects of genomic variants on proteins. It aids in interpreting variants of uncertain significance and understanding disease mechanisms.
Area of Science:
- Genomics
- Structural Biology
- Bioinformatics
Background:
- Genomic variants play a crucial role in disease, but many are classified as Variants of Uncertain Significance.
- Current prediction methods for pathogenic variants often lack mechanistic insights.
- Interpreting and characterizing genomic variants remains a challenge.
Purpose of the Study:
- To introduce MAVISp (Multi-layered Assessment of VarIants by Structure for proteins), a novel structural framework for variant effect assessment.
- To provide a web server for enhanced data accessibility, consultation, and re-usability of variant effect data.
- To improve the understanding of molecular mechanisms underlying variant pathogenicity.
Main Methods:
- Development of a modular structural framework (MAVISp) for variant effect analysis.
- Incorporation of free-energy calculations and biomolecular simulations.
- Regular curation and updating of protein entries by biocurators.
Main Results:
- MAVISp provides data on over 1000 proteins and 10 million variants.
- The framework facilitates analysis of variant effects at the protein level.
- Case studies demonstrate the utility of MAVISp in analyzing variant effects.
Conclusions:
- MAVISp enhances the interpretation of genomic variants, particularly those of uncertain significance.
- The framework offers insights into molecular mechanisms of variant effects.
- MAVISp has the potential to advance the application of mutational data in disease research.
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