PRSS48

Chr 4

serine protease 48

Also known as: ESSPL

NCBI Gene: 345062ENSG00000189099UniProt: Q7RTY5

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.000
Z-score -0.85
OE 1.27 (0.84–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.86 (0.75–0.98)
154 obs / 179.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.27 (0.84–1.83)
0≤0.351.4
Missense OE?0.86 (0.75–0.98)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 15 / 11.8Missense obs/exp: 154 / 179.6Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRSS48 · 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