PRSS48

protein-coding

serine protease 48, the group of Serine proteases

Gene summary

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]

MANE transcript

NM_183375.5

Inheritance

—

ClinVar variants

U:53B:7

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 1.27

Max pathogenic AF

—

Genomic locus

chr4:151,277,161-151,291,862

External References & Databases

Ensembl (ENSG00000189099)

Transcript & Mutation Effects

hg38 • Region Span ~14.7 kb

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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 PRSS48 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 56

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

Essential tremorTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_183375.5. 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			51 clinvar	7 clinvar		58
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	7	0	60

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_183375.5	RefSeq	NP_899231.4	5	MANE Select
ENST00000455694.7	Ensembl	ENSP00000401328.2	5	MANE Select
ENST00000441586.2	Ensembl	ENSP00000401420.2	3	Standard

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: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000455694
Coding exons: 5
Length: 14283
Individuals with no LoFs: 57508
Homozygous LoFs: 15735
Heterozygous LoFs: 51396
Defined: 124639
p: 0.321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.679	154	180	0.857	0.00000960	2103
Missense (PolyPhen)		51	58.007	0.8792		746
Synonymous	0.107	67	68.1	0.984	0.00000386	668
Loss of Function	-0.852	15	11.8	1.27	6.04e-7	127

Population LoF Frequency

Population	CAF	p-value	Status
African	0.13	0.13	notable
Latino/Admixed American	0.19	0.19	notable
Ashkenazi Jewish	0.29	0.29	notable
East Asian	0.20	0.20	notable
Finnish	0.41	0.41	notable
European (Non-Finnish)	0.44	0.44	notable
South Asian	0.23	0.22	notable
Other	0.36	0.35	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.600
RVIS EVS: 1.17
RVIS percentile EVS: 92.7

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.283

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High