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Update example for functional variant supporting pathogenicity #241

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ahwagner opened this issue Dec 6, 2024 · 1 comment

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ahwagner commented Dec 6, 2024

per @afrubin, regarding this test fixture:

The variant that's in the examples (NP_000305.3:p.Arg11Thr) does not support pathogenicity. Try NP_000305.3:p.Ile67Lys instead if it's not too hard to change. The score is 0.272300803355096

mbrush added this to VA-Spec

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srinitha709 commented Jan 9, 2025

@ahwagner I've made the updates and successfully raised a Pull Request (PR) for review

larrybabb added this to VA-Spec

ahwagner moved this to Backlog in VA-Spec

ahwagner removed this from VA-Spec

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