ProtVar integrates human variant annotations and predictions to uncover the functional effects of missense variation in humans. Learn how our diverse data and intuitive visualisations can help you to contextualise your variant list or browse and prioritise variants from our expansive database.

Genomic variation can perturb normal biological processes through diverse and context-dependent mechanisms, necessitating the integration of multi-dimensional datasets to accurately interpret their effects. Protein coding variation, in particular, offers unique opportunities beyond clinical diagnostics, such as the identification of therapeutic targets and engineering applications in synthetic biology. However, it also introduces significant interpretative complexity, contributing to the high proportion of missense variants that remain of uncertain significance.

ProtVar is a human variant annotation and assessment web tool developed at EMBL-EBI, designed to offer users exceptional flexibility, accessibility, and seamless integration. It aggregates data and analyses from a wide range of resources to provide comprehensive genomic, protein sequence, functional, and structural insights, facilitating a deeper understanding of the potential impact of missense variation in humans. This webinar will provide practical guidance on how to explore and interact with ProtVar’s diverse annotations and predictive features to contextualise human missense variants. It will cover the types of annotations available, the visualisations offered, and the various methods for retrieving and exporting data.

Who is this course for?

This webinar is suitable for anyone interested in interpreting the effect of human missense variation, for example geneticists, e.g. those researching rare diseases, drug designers investigating the effect of variation on targets, clinical geneticists diagnosing developmental disorders, protein functional/structural biologists or synthetic biologists redesigning enzymes. No prior knowledge of bioinformatics is required, but undergraduate level knowledge of biology would be useful.

Outcomes

By the end of this webinar you will be able to:

• Access ProtVar in various ways with different data types 

• Explore the many types of annotations and predictions available in ProtVar 

• Visualise and retrieve the information which is most useful to you

DOI: 10.6019/TOL.Variant-ProtVar-w.2025.00001.1

This webinar took place on 13 November 2025. Please click the 'Watch video' button to view the recording.