TMEM219

Chr 16

transmembrane protein 219

ENSG00000149932UniProt: Q86XT9OMIM: 620290

Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding

OMIMResearchGenerating clinical summary…
LOEUF 1.47
Clinical Summary— TMEM219
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score 0.58
OE 0.79 (0.45–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.94 (0.81–1.09)
126 obs / 133.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.45–1.47)
0≤0.351.4
Missense OE?0.94 (0.81–1.09)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 7 / 8.9Missense obs/exp: 126 / 133.9Syn Z: 0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM219 · 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.

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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