PRSS51

Chr 8

serine protease 51

NCBI Gene: 346702 ENSG00000253649 UniProt: A0A1B0GVH4

The protein is predicted to function as a serine endopeptidase that cleaves proteins in the extracellular space. No established human disease associations have been reported for mutations in this gene. The clinical significance of PRSS51 variants in pediatric neurology remains unknown.

ResearchSummary from RefSeq

Predicted to enable serine-type peptidase activity. Predicted to be involved in protein processing. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

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

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PRSS51?

gnomAD v4 · ~124k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 91

316 rare PASS variants

Rare truncating (LoF)

1 in 800

67 rare PASS variants

Rare synonymous (reference)

1 in 280

115 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PRSS51. 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)	~79k	1 in 74	1 in 910
African / African American	~21k	1 in 42	1 in 350
East Asian	~11k	1 in 89	1 in 1,000
European (Finnish)	~11k	1 in 220	1 in 1,500
Remaining (unassigned)	~8,196	1 in 66	1 in 740
Admixed American	~7,652	1 in 85	1 in 930
Ashkenazi Jewish	~4,622	1 in 460	≈ 1 in 4,600
South Asian	~2,417	1 in 47	1 in 150
Middle Eastern	~651	1 in 54	≈ 1 in 650

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.

Exome coverage (gnomAD): 0 of 5 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4, 5 poorly covered. Genomes: all 5.? see exons ↓