SPARCL1

Chr 4

SPARC like 1

Also known as: MAST 9, MAST9, PIG33, SC1

NCBI Gene: 8404ENSG00000152583UniProt: Q14515OMIM: 606041

Predicted to enable calcium ion binding activity. Predicted to be involved in regulation of synapse organization. Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
46
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.70
OE 0.66 (0.46–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.06Z-score
OE missense 0.99 (0.91–1.08)
337 obs / 340.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.46–0.97)
0≤0.351.4
Missense OE?0.99 (0.91–1.08)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 19 / 28.8Missense obs/exp: 337 / 340.3Syn Z: 0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPARCL1 · 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