LENEP

Chr 1

lens epithelial protein

Also known as: LEP503

NCBI Gene: 55891ENSG00000163352UniProt: Q9Y5L5

The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
0
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.003
Z-score -0.64
OE 1.48 (0.56–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.40Z-score
OE missense 0.81 (0.60–1.11)
29 obs / 35.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.48 (0.56–1.93)
0≤0.351.4
Missense OE?0.81 (0.60–1.11)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 3 / 2.0Missense obs/exp: 29 / 35.7Syn Z: -0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LENEP · 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