PRSS38

protein-coding

serine protease 38, 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. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_183062.3

Inheritance

—

ClinVar variants

U:66B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr1:227,815,675-227,846,470

External References & Databases

Ensembl (ENSG00000185888)

Transcript & Mutation Effects

hg38 • Region Span ~30.8 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 PRSS38 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 67

not providedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_183062.3. 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				2 clinvar	5 clinvar	7
missense			66 clinvar	2 clinvar	3 clinvar	71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	4	8	78

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_183062.3	RefSeq	NP_898885.1	5	MANE Select
ENST00000366757.4	Ensembl	ENSP00000355719.3	5	MANE Select
NM_001374657.2	RefSeq	NP_001361586.1	4	Standard
ENST00001103187.1	Ensembl	ENSP00000772991.1	4	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 region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000366757
Coding exons: 5
Length: 30778
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125746
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0795	203	200	1.02	0.0000117	2071
Missense (PolyPhen)		80	79.537	1.0058		802
Synonymous	-0.225	89	86.3	1.03	0.00000574	686
Loss of Function	1.02	8	11.8	0.678	5.04e-7	123

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.215
RVIS EVS: 1.42
RVIS percentile EVS: 94.93

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