APOLD1

Chr 12AD

apolipoprotein L domain containing 1

Also known as: BDVAS, VERGE

NCBI Gene: 81575ENSG00000178878UniProt: Q96LR9OMIM: 612456

APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Bleeding disorder, vascular-typeMIM #620715
AD

Clinical highlights

Gene-disease validity (ClinGen)
inherited blood coagulation disorder · ADLimitednot for standalone diagnostic reporting
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.74
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.74LOEUF
pLI 0.000
Z-score 0.10
OE 0.96 (0.52–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.45Z-score
OE missense 0.89 (0.77–1.04)
120 obs / 134.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.96 (0.52–1.74)
0≤0.351.4
Missense OE?0.89 (0.77–1.04)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 6 / 6.3Missense obs/exp: 120 / 134.7Syn Z: 1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

APOLD1 · 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