GSDMD
Chr 8gasdermin D
Also known as: DF5L, DFNA5L, FKSG10, GSDMDC1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 55 | 0 | 55 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 89 | 5 | 0 | 94 |
Likely Benign | 0 | 6 | 0 | 4 | 10 |
Benign | 0 | 4 | 2 | 1 | 7 |
| Total | 0 | 99 | 67 | 5 | 171 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GSDMD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools