PRSS53

Chr 16

serine protease 53

Also known as: POL3S, UNQ308

NCBI Gene: 339105 ENSG00000151006 UniProt: Q2L4Q9 OMIM: 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.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.36

Clinical Summary— PRSS53

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

95 VUS of 111 total submissions

Explore recent and relevant literature in Research Assistant →

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 OE?0.98 (0.71–1.36)

0≤0.351.4

Missense OE?0.92 (0.84–1.02)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 25 / 25.6Missense obs/exp: 294 / 318.4Syn Z: -0.03

ClinVar Variant Classifications

111 submitted variants in ClinVar

ClinVar

Classification Summary

VUS95

Likely Benign7

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	95	0	95
Likely Benign	6	1	7
Benign	1	0	1
Total	102	1	103

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

14 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap PRSS53 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →