a3b068a5c19262b2ad74db394e508fd61c7eb6b0 gperez2 Sun Aug 23 22:23:09 2026 -0700 Updating gnomadMpc.html's transcript count to the verified 18,245 and updating the tag to beta, refs #37478 diff --git src/hg/makeDb/trackDb/human/hg38/gnomadMpc.html src/hg/makeDb/trackDb/human/hg38/gnomadMpc.html index 69f6390e06d..373e878e0de 100644 --- src/hg/makeDb/trackDb/human/hg38/gnomadMpc.html +++ src/hg/makeDb/trackDb/human/hg38/gnomadMpc.html @@ -1,26 +1,24 @@ <h2>Description</h2> <p> This track shows MPC v4.1.1 ("Missense deleteriousness Prediction by Constraint"), a machine-learning score that predicts which missense variants are likely to be deleterious. It was computed by the Broad Institute gnomAD team from the <b>gnomAD v4.1.1</b> release of 730,947 exomes aligned to GRCh38/hg38. Scores are provided for every possible single-nucleotide -missense variant in 17,841 MANE Select or canonical protein-coding -transcripts that passed gnomAD QC, as well as for an additional 1,534 -transcripts that failed QC (the authors note that scores may be less -accurate in these 1,534 transcripts). +missense variant across 18,245 MANE Select or canonical protein-coding +transcripts. </p> <p> Missense variants change a single amino acid in a protein and are a common source of variants of uncertain significance (VUS): about 90% of missense variants in ClinVar are VUS. MPC predicts which missense variants are likely deleterious by combining three lines of evidence: (i) regional missense constraint (how depleted the surrounding sub-genic region is of rare missense variation in the general population), (ii) the biochemical severity of the specific amino-acid substitution and additional protein-structure and homology information from PolyPhen-2, and (iii) cross-species conservation (phyloP). Higher scores indicate greater predicted deleteriousness. </p> <p>