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@nakib103 nakib103 commented Oct 22, 2025

We added AlphaMissense and ESM1b scores in replacement of MetaLR and MutationAssessor in #1176

Alphamissense takes 3 bit prediction instead of 2-bit as before. This requires updates to all the scores in the protein function tables for all the species we have data for.

In this PR we change other tools to use 2-bit as before, only the new tools, dbnsfp_alphamissense and dbnsfp_esm1b, that are added uses 3 bits prediction.

Test

Test using transcript ENST00000311351

sandbox urls -

dbNSFP Alphamissense+ESM1b -
compare same scores as before
image

SIFT/Polyphen/CADD/REVEL
Check with current website, e.g -
https://www.ensembl.org/Homo_sapiens/Transcript/Variation_Transcript/Table?db=core;g=ENSG00000175324;p=ENSP00000310596;r=8:38163339-38176493;t=ENST00000311351

@nakib103 nakib103 marked this pull request as draft October 22, 2025 10:21
@nakib103 nakib103 marked this pull request as ready for review October 22, 2025 11:00
@jamie-m-a jamie-m-a self-requested a review October 22, 2025 11:57
@jamie-m-a jamie-m-a self-assigned this Oct 22, 2025
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Thanks for reverting / adding this functionality

@jamie-m-a jamie-m-a merged commit bb70fd0 into Ensembl:postreleasefix/116 Oct 23, 2025
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2 participants