GSDMD

Gasdermin D is a precursor of a pore-forming protein that plays a key role in host defense against pathogen infection by forming membrane pores and triggering pyroptosis (a form of inflammatory cell death). Mutations cause familial keratoderma with inflammatory lesions, inherited in an autosomal dominant pattern. This gene shows very low constraint against loss-of-function variants, suggesting such mutations are well-tolerated.