LCE1E

Chr 1

late cornified envelope 1E

Also known as: LEP5

NCBI Gene: 353135ENSG00000186226UniProt: Q5T753OMIM: 612607

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
1.66
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.170
Z-score 0.82
OE 0.43 (0.15–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.14Z-score
OE missense 1.41 (1.18–1.68)
87 obs / 61.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.43 (0.15–1.66)
0≤0.351.4
Missense OE?1.41 (1.18–1.68)
0≤0.61.4
Synonymous OE?1.61
0≤1.21.6
LoF obs/exp: 1 / 2.4Missense obs/exp: 87 / 61.8Syn Z: -2.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE1E · 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