PRSS41

Chr 16

serine protease 41

Also known as: TESSP1

PRSS41 encodes a predicted serine protease with endopeptidase activity involved in proteolysis and localized to the plasma membrane. Currently, no human diseases have been definitively associated with mutations in this gene. The clinical significance of PRSS41 variants remains to be established.

ResearchSummary from RefSeq
Multiplemechanism

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.7229th %ile
GOF
0.73top 25%
LOF
0.2970th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRSS41 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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