this is exactly the sort of case where I don’t trust alphafold much, because “this is one substitution away from a standard sequence, I’ll just output the structure of that standard sequence” is exactly the sort of heuristic I’d expect a net to over-rely upon.
Yep. AlphaMissense, also from DeepMind, is tailored to pathogenicity prediction. You can find its pathogenicity scores in the annotations tab for any (at least I think any) human protein on AFDB.
Yep. AlphaMissense, also from DeepMind, is tailored to pathogenicity prediction. You can find its pathogenicity scores in the annotations tab for any (at least I think any) human protein on AFDB.
https://alphafold.ebi.ac.uk/entry/P30559?activeTab=annotations
(You may have to click on a different tab and return to the annotations tab for the heatmap and structure viewer to load).