NEIL1 G83D variant is a low frequency polymorphism, estimated to occur in ~1% of US population (Roy et al. 2007), and is associated with primary sclerosing cholangitis and cholangiocarcinoma (Forsbring et al. 2009). NEIL1 G83D does not cleave FapyA from damaged DNA (Roy at al. 2007).
Loss of function of NEIL1 G83D:FapyA-dsDNA [nucleoplasm]