The MITER classifier provides functional classification and supports quantitative predictions of pathogenicity for any missense variant using comprehensive experimental data. It currently supports functional classification for missense variants in the gene PPARG and quantitative predictions for familial partial lipodystrophy 3 (FPLD3) and Type 2 Diabetes.
See Majithia AR, et al. Prospective functional classification of all possible missense variants in PPARG. Nature Genetics. 2016 doi:10.1038/ng.3700 for details.
PPARG

Enter Missense Variant

Examples - Protein change : p.P12A or p.Pro12Ala, Genomic coordinates : chr3-12393125-C-G

Enter Disease Prevalence

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