PRSS45P
pseudoserine protease 45, pseudogene, the group of Serine proteases
Gene summary
Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]
- PRSS45
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PRSS45P variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- proteolysis
Molecular Function
- serine-type endopeptidase activity
Cellular Component
- extracellular space
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000442359
- Coding exons
- 4
- Length
- 70467
- Individuals with no LoFs
- 123185
- Homozygous LoFs
- 65
- Heterozygous LoFs
- 1397
- Defined
- 124647
- p
- 0.00588
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.222 | 135 | 128 | 1.06 | 0.00000674 | 1480 |
| Missense (PolyPhen) | 42 | 36.866 | 1.1393 | 467 | ||
| Synonymous | 0.384 | 43 | 46.3 | 0.928 | 0.00000231 | 437 |
| Loss of Function | 0.379 | 6 | 7.09 | 0.846 | 3.00e-7 | 88 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.087 | 0.086 | notable |
| Latino/Admixed American | 0.0031 | 0.0031 | notable |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00055 | 0.00050 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00036 | 0.00035 | rare |
| South Asian | 0.00079 | 0.00065 | rare |
| Other | 0.0025 | 0.0025 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.427
- RVIS EVS
- 0.93
- RVIS percentile EVS
- 89.7
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |