LEAP2

Chr 5

liver enriched antimicrobial peptide 2

Also known as: LEAP-2

NCBI Gene: 116842ENSG00000164406UniProt: Q969E1

This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]

ResearchGenerating clinical summary…
2
Active trials
55
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
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?
1.87LOEUF
pLI 0.001
Z-score -0.17
OE 1.10 (0.52–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.01Z-score
OE missense 1.00 (0.78–1.28)
44 obs / 44.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.10 (0.52–1.87)
0≤0.351.4
Missense OE?1.00 (0.78–1.28)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 4 / 3.6Missense obs/exp: 44 / 44.2Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LEAP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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