LCE3D

Chr 1

late cornified envelope 3D

Also known as: LEP16, SPRL6A, SPRL6B

NCBI Gene: 84648ENSG00000163202UniProt: Q9BYE3

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

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.90
LOEUF
DN
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 0.021
Z-score -0.24
OE 1.20 (0.41–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.77Z-score
OE missense 1.29 (1.07–1.58)
70 obs / 54.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.20 (0.41–1.90)
0≤0.351.4
Missense OE?1.29 (1.07–1.58)
0≤0.61.4
Synonymous OE?1.47
0≤1.21.6
LoF obs/exp: 2 / 1.7Missense obs/exp: 70 / 54.1Syn Z: -1.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE3D · 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