VWA2

Chr 10

von Willebrand factor A domain containing 2

Also known as: AMACO, CCSP-2, CCSP2, NET42

NCBI Gene: 340706ENSG00000165816UniProt: Q5GFL6OMIM: 618281

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
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Pubs (1 yr)
—
P/LP submissions
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P/LP missense
1.39
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.39LOEUF
pLI 0.000
Z-score 0.01
OE 1.00 (0.73–1.39)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.93–1.08)
457 obs / 456.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.00 (0.73–1.39)
0≤0.351.4
Missense OE?1.00 (0.93–1.08)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 26 / 26.0Missense obs/exp: 457 / 456.3Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VWA2 · 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