PRSS53

Chr 16

serine protease 53

Also known as: POL3S, UNQ308

NCBI Gene: 339105ENSG00000151006UniProt: Q2L4Q9OMIM: 610561

The PRSS53 protein functions as a serine endopeptidase that degrades fibrinogen alpha chain and pro-urokinase-type plasminogen activator in the extracellular space. This gene is not highly constrained against loss-of-function variants (pLI nearly 0, LOEUF >1), and no specific disease associations have been established in the provided data. Clinical phenotypes associated with PRSS53 mutations remain to be defined.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.36
Clinical Summary— PRSS53
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.36LOEUF
pLI 0.000
Z-score 0.11
OE 0.98 (0.71–1.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.49Z-score
OE missense 0.92 (0.84–1.02)
294 obs / 318.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.98 (0.71–1.36)
0≤0.351.4
Missense OE0.92 (0.84–1.02)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 25 / 25.6Missense obs/exp: 294 / 318.4Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRSS53 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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