OVCH1

Chr 12

ovochymase 1

Also known as: OVCH

NCBI Gene: 341350ENSG00000187950UniProt: Q7RTY7

Predicted to enable metal ion binding activity and serine-type endopeptidase activity. Predicted to be involved in fertilization and proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
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?
1.22LOEUF
pLI 0.000
Z-score 0.16
OE 0.98 (0.79–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.38Z-score
OE missense 0.95 (0.89–1.02)
543 obs / 568.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.79–1.22)
0≤0.351.4
Missense OE?0.95 (0.89–1.02)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 55 / 56.3Missense obs/exp: 543 / 568.7Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OVCH1 · 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