IL17REL
Chr 22interleukin 17 receptor E like
The protein functions as an interleukin-17 receptor involved in cytokine-mediated signaling pathways. Mutations in this gene have not been definitively associated with any established human disease phenotypes. The gene shows tolerance to loss-of-function variants (pLI 0.002, LOEUF 0.72), suggesting it may not be essential for normal human development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
227 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 | 136 | 0 | 136 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 67 | 8 | 0 | 76 |
Likely Benign | 0 | 3 | 0 | 7 | 10 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 70 | 147 | 7 | 225 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IL17REL · 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 →External Resources
Links to major genomics databases and tools