EGFL8

Chr 6

EGF like domain multiple 8

Also known as: C6orf8, NG3

NCBI Gene: 80864ENSG00000241404UniProt: Q99944

Predicted to enable signaling receptor binding activity. Predicted to be involved in vasculogenesis. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 1.02
OE 0.74 (0.48–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.77Z-score
OE missense 0.85 (0.74–0.96)
169 obs / 199.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.48–1.17)
0≤0.351.4
Missense OE?0.85 (0.74–0.96)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 13 / 17.6Missense obs/exp: 169 / 199.8Syn Z: 0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EGFL8 · 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 →

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