MitImpact is a collection of genomic, clinical and functional annotations for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes
Search by
[23-08-2023] A paper entitled APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants was just published in Nature Communications and is available here!
[18-08-2028] MitImpact 3D 3.1.2 released today, with minor fixes of HelixMTdb frequency values, MITOMAP updated (accessed on July, 1st), and intra-VUS soft thresholds introduced (see the Description page)
[25-06-2023] MitImpact 3D 3.1.1 released today, with minor fixes to the conservation scores, SIFT4G added, and APOGEE 1 reintroduced for backward compatibility.
[30-11-2022] Today we have released MitImpact 3D version 3.1.0. It contains the new APOGEE 2 scores, hazards, and five pathogenicity classes. More info in description. MitImpact and APOGEE are freely available for non-commercial purposes. Check the license in the menu bar above.
