GSDMA

Chr 17

gasdermin A

Also known as: FKSG9, GSDM, GSDM1

NCBI Gene: 284110ENSG00000167914UniProt: Q96QA5

Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in perinuclear region of cytoplasm. Is active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
8
Pathogenic / LP
66
ClinVar variants
19
Pubs (1 yr)
0.3
Missense Z
1.43
LOEUF
Clinical Summary— GSDMA
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 51 VUS of 66 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.43LOEUF
pLI 0.000
Z-score -0.08
OE 1.02 (0.74–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.28Z-score
OE missense 0.95 (0.85–1.06)
224 obs / 236.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.02 (0.74–1.43)
0≤0.351.4
Missense OE0.95 (0.85–1.06)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 24 / 23.6Missense obs/exp: 224 / 236.0Syn Z: 1.02

ClinVar Variant Classifications

66 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
VUS51
Likely Benign6
Benign1
8
Pathogenic
51
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
0
0
0
VUS
0
49
2
0
51
Likely Benign
0
4
0
2
6
Benign
0
0
1
0
1
Total05311266

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

GSDMA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients