LCE3B

Chr 1

late cornified envelope 3B

Also known as: LEP14

Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of another organism. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.93
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.003
Z-score -0.62
OE 1.47 (0.561.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.29Z-score
OE missense 0.50 (0.370.69)
27 obs / 53.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.47 (0.561.93)
00.351.4
Missense OE?0.50 (0.370.69)
00.61.4
Synonymous OE?0.55
01.21.6
LoF obs/exp: 3 / 2.0Missense obs/exp: 27 / 53.6Syn Z: 1.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LCE3B · 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

No active trials found for this gene.

Search ClinicalTrials.gov →