PRSS23

Chr 11

serine protease 23

Also known as: SIG13, SPUVE, ZSIG13

NCBI Gene: 11098 ENSG00000150687 UniProt: O95084 OMIM: 618376

This gene encodes a serine protease belonging to the trypsin family. The protein is extremely tolerant to loss-of-function variants (pLI near 0, LOEUF ~1.0), and no established Mendelian diseases have been associated with PRSS23 mutations in humans.

OMIM ResearchSummary from RefSeq

This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PRSS23?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

602 rare PASS variants

Rare truncating (LoF)

1 in 470

74 rare PASS variants

Rare synonymous (reference)

1 in 130

231 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PRSS23; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 1,800
South Asian	~43k	1 in 82	1 in 1,600
Remaining (unassigned)	~30k	1 in 67	1 in 580
European (Finnish)	~27k	1 in 310	1 in 2,800
Admixed American	~22k	1 in 120	1 in 780
African / African American	~21k	1 in 65	1 in 2,400
East Asian	~20k	1 in 120	1 in 740
Ashkenazi Jewish	~13k	1 in 680	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 84	1 in 320

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.