LRRC66

Chr 4

leucine rich repeat containing 66

NCBI Gene: 339977ENSG00000188993UniProt: Q68CR7

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. [provided by RefSeq, Apr 2017]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score -0.66
OE 1.22 (0.79–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.23Z-score
OE missense 1.16 (1.08–1.25)
543 obs / 468.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.22 (0.79–1.81)
0≤0.351.4
Missense OE?1.16 (1.08–1.25)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 13 / 10.7Missense obs/exp: 543 / 468.2Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRC66 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients