File Description

Abstract

AlphaMissense_hg19.tsv.gz, AlphaMissense_hg38.tsv.gz Predictions for all possible single nucleotide missense variants (71M) from 19k human protein-coding genes (canonical transcripts) for both hg19 and hg38 coordinates. These files are sorted by genomic coordinates. AlphaMissense_gene_hg19.tsv.gz, AlphaMissense_gene_hg38.tsv.gz Gene-level average predictions, which were computed by taking the mean alphamissense_pathogenicity over all possible missense variants in a transcript (canonical transcript). AlphaMissense_aa_substitutions.tsv.gz Predictions for all possible single amino acid substitutions within 20k UniProt canonical isoforms (216M protein variants). These are a superset of the amino acid substitutions induced by single nucleotide missense variants. This file uses UniProt accession numbers for proteins and does not have genomic coordinates. AlphaMissense_isoforms_hg38.tsv.gz Predictions for all possible missense variants for 60k non-canonical transcript isoforms (hg38, GENCODE V32). This file has transcript_id but no UniProt accession numbers. Predictions for non-canonical isoforms were not thoroughly evaluated and should be used with caution. This file is sorted by genomic coordinates. AlphaMissense_isoforms_aa_substitutions.tsv.gz Predictions for all possible single amino acid substitutions for 60k non-canonical transcript isoforms (GENCODE V32). These are a superset of the amino acid substitutions induced by single nucleotide missense variants.This file has transcript_id but no UniProt accession numbers.