Functionally derived variant dataset

Here we provide genetic variant data mined from large scale biochemical assays of protein function. These dataset will serve as a valuable resource for assessing performance of variant effect prediction methods.

The dataset are:

UniFun - derived from UniProt mutagenesis data

BRCA1-DMS - derived from the deep mutational scanning (DMS) protocol applied to BRCA1

TP53-TA - TP53 transactivation assay (Kato et al. 2003).

Here we make available the variants in VCF format.

Please cite: 

Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope and Daniel J. Park*, Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.