FBXL14
Chr 12F-box and leucine rich repeat protein 14
Also known as: Fbl14
FBXL14 encodes a substrate-recognition component of SCF ubiquitin ligase complexes that targets specific proteins like SNAI1 for degradation through the ubiquitin-proteasome pathway. Mutations cause autosomal recessive intellectual disability with dysmorphic features and behavioral abnormalities. This gene is highly constrained against loss-of-function mutations, suggesting critical developmental importance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
115 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 62 | 0 | 62 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 33 | 8 | 0 | 41 |
Likely Benign | 0 | 0 | 2 | 2 | 4 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 33 | 75 | 3 | 111 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FBXL14 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools