LCE2A

Chr 1

late cornified envelope 2A

Also known as: LEP9

NCBI Gene: 353139ENSG00000187173UniProt: Q5TA79OMIM: 612609

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
1.84
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.84LOEUF
pLI 0.007
Z-score 0.09
OE 0.95 (0.41–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.03Z-score
OE missense 1.37 (1.15–1.64)
85 obs / 62.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.41–1.84)
0≤0.351.4
Missense OE?1.37 (1.15–1.64)
0≤0.61.4
Synonymous OE?1.55
0≤1.21.6
LoF obs/exp: 3 / 3.2Missense obs/exp: 85 / 62.2Syn Z: -2.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE2A · 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