TMPRSS7
Chr 3transmembrane serine protease 7
The protein is a serine protease that preferentially cleaves peptides with arginine at the P1 position and is predicted to be active at the plasma membrane. This gene is not highly constrained against loss-of-function variants (pLI near 0, LOEUF >1). No established disease associations have been reported for TMPRSS7 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
155 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 16 | 0 | 16 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 120 | 1 | 0 | 121 |
Likely Benign | 0 | 4 | 0 | 2 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 124 | 17 | 2 | 143 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TMPRSS7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools