PolyPhen-2 Tutorial Series: Interpreting a PolyPhen-2 Report

This tutorial describes how to interpret a results report from Polymorphism Phenotyping v2 (PolyPhen-2). PolyPhen-2 reports contain information about the query variant, variant effect prediction results, and additional details about the protein. Want to practice applying this information? Check out the activities in our Sequence Comparison & Identity module on our website: https://www.jax.org/education-and-learning/high-school-students-and-undergraduates/teaching-the-genome-generation/stem-learning-resources?eduTopic=dff8d5d3-7b45-4af1-b0df-504053d7eef6 Or on LabXchange: https://www.labxchange.org/library/pathway/lx-pathway:430d9cc3-22f1-426c-885f-82119f469e64 PolyPhen-2: http://genetics.bwh.harvard.edu/pph2/ PolyPhen-2 Tutorial Series Playlist: https://www.youtube.com/playlist?list=PLWNp6Z5dXDZ61kvBXYlr60B6deiAVy-tj UniProt Tutorial Series Playlist: https://www.youtube.com/playlist?list=PLWNp6Z5dXDZ6VsQN0dU3RgNbNEhUuPp-t Genomic Education at The Jackson Laboratory: https://www.jax.org/education-and-learning Genetics Learning Resources from The Jackson Laboratory: https://www.jax.org/stem-resources Key moments: 0:00 Introduction 0:16 PolyPhen-2 report overview 0:56 Locating query details 2:03 Locating and interpreting variant effect prediction scores 5:48 Accessing details about sequence alignment and 3D structure 8:00 Conclusion Keywords: PolyPhen-2, HumDiv, HumVar, UniProt, sequence alignment, variant effect prediction