PRSS35

Chr 6

serine protease 35

Also known as: C6orf158, dJ223E3.1

NCBI Gene: 167681ENSG00000146250UniProt: Q8N3Z0

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
13
Pathogenic / LP
72
ClinVar variants
1
Pubs (1 yr)
-0.3
Missense Z
1.66
LOEUF
Clinical Summary— PRSS35
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 52 VUS of 72 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.66LOEUF
pLI 0.000
Z-score -0.26
OE 1.08 (0.71–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.27Z-score
OE missense 1.05 (0.95–1.17)
253 obs / 241.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.08 (0.71–1.66)
0≤0.351.4
Missense OE1.05 (0.95–1.17)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 14 / 13.0Missense obs/exp: 253 / 241.1Syn Z: 0.42

ClinVar Variant Classifications

72 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
VUS52
Likely Benign4
Benign3
13
Pathogenic
52
VUS
4
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
0
0
0
VUS
0
47
5
0
52
Likely Benign
0
2
0
2
4
Benign
0
0
0
3
3
Total04918572

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

View in ClinVar →

PRSS35 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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