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.

Enter Missense Variant

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

Enter Disease Prevalence

Reference amino acid Pro
Reference codon cca
Protein change p.Pro12Ala
Experimental function score 1.304
At disease prevalence 1.0E-5
Probability of causing FPLD3 less than 0.1%
Clinical prediction for FPLD3 not pathogenic
Clinical prediction for type 2 diabetes no increased risk