FBXL18

Chr 7

F-box and leucine rich repeat protein 18

Also known as: Fbl18

FBXL18 encodes a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes that targets proteins like FBXL7 for polyubiquitylation and proteasomal degradation. The gene shows very low constraint to loss-of-function variants (pLI <0.01, LOEUF 0.88), but no established human disease associations have been reported to date. Clinical significance of FBXL18 variants remains uncertain pending additional evidence.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.88
Clinical SummaryFBXL18
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.88LOEUF
pLI 0.000
Z-score 1.94
OE 0.50 (0.300.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.80Z-score
OE missense 0.77 (0.710.84)
369 obs / 479.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.50 (0.300.88)
00.351.4
Missense OE0.77 (0.710.84)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 9 / 17.9Missense obs/exp: 369 / 479.7Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FBXL18 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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