LCE1F

Chr 1

late cornified envelope 1F

Also known as: LEP6

NCBI Gene: 353137ENSG00000240386UniProt: Q5T754OMIM: 612608

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.005
Z-score -0.24
OE 1.16 (0.48–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.16Z-score
OE missense 1.05 (0.87–1.27)
75 obs / 71.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.16 (0.48–1.89)
0≤0.351.4
Missense OE?1.05 (0.87–1.27)
0≤0.61.4
Synonymous OE?1.50
0≤1.21.6
LoF obs/exp: 3 / 2.6Missense obs/exp: 75 / 71.3Syn Z: -2.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE1F · 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