IL17REL

Chr 22

interleukin 17 receptor E like

NCBI Gene: 400935 ENSG00000188263 UniProt: Q6ZVW7 OMIM: 613414

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.

OMIM ResearchSummary from RefSeq

Predicted to enable interleukin-17 receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.72

Clinical Summary— IL17REL

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

68 VUS of 80 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.72LOEUF

pLI 0.002

Z-score 2.50

OE 0.40 (0.23–0.72)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.29Z-score

OE missense 0.94 (0.84–1.06)

187 obs / 198.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.40 (0.23–0.72)

0≤0.351.4

Missense OE?0.94 (0.84–1.06)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 8 / 20.1Missense obs/exp: 187 / 198.4Syn Z: -0.70

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

VUS68

Likely Benign10

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	1	67	0	68
Likely Benign	0	3	7	10
Benign	0	0	0	0
Total	1	70	7	78

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

138 pathogenic / likely-pathogenic (of 147) ClinVar copy-number / structural variants overlap IL17REL — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →