C1RL

Chr 12

complement C1r subcomponent like

Also known as: C1RL1, C1RLP, C1r-LP, CLSPa

NCBI Gene: 51279ENSG00000139178UniProt: Q9NZP8

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
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?
1.16LOEUF
pLI 0.000
Z-score 1.05
OE 0.74 (0.49–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.90Z-score
OE missense 0.85 (0.77–0.94)
243 obs / 285.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.49–1.16)
0≤0.351.4
Missense OE?0.85 (0.77–0.94)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 14 / 18.9Missense obs/exp: 243 / 285.9Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C1RL · 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