LCORL

Chr 4

ligand dependent nuclear receptor corepressor like

Also known as: MLR1

NCBI Gene: 254251ENSG00000178177UniProt: Q8N3X6OMIM: 611799

This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
42
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.924
Z-score 3.98
OE 0.15 (0.07–0.35)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.66Z-score
OE missense 0.72 (0.64–0.81)
201 obs / 279.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.15 (0.07–0.35)
0≤0.351.4
Missense OE?0.72 (0.64–0.81)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 4 / 25.9Missense obs/exp: 201 / 279.0Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCORL · 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