LRRC40
Chr 1leucine rich repeat containing 40
Also known as: dJ677H15.1
The LRRC40 protein is predicted to function in intracellular signal transduction and is located in cellular membranes. Mutations in this gene have not been definitively associated with human disease based on the available information. The gene shows very low constraint against loss-of-function variants (pLI near zero, LOEUF 1.35), suggesting tolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
121 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 62 | 4 | 0 | 66 |
Likely Benign | 0 | 7 | 1 | 0 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 69 | 27 | 0 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRRC40 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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