LCE2D

Chr 1

late cornified envelope 2D

Also known as: LEP12, SPRL1A

NCBI Gene: 353141ENSG00000187223UniProt: Q5TA82

Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.90LOEUF
pLI 0.085
Z-score -0.13
OE 1.16 (0.28–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.66Z-score
OE missense 1.23 (1.03–1.48)
81 obs / 65.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.16 (0.28–1.90)
0≤0.351.4
Missense OE?1.23 (1.03–1.48)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 1 / 0.9Missense obs/exp: 81 / 65.9Syn Z: -0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE2D · 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