CCL14
Chr 17C-C motif chemokine ligand 14
Also known as: CC-1, CC-3, CKB1, HCC-1, HCC-1(1-74), HCC-1/HCC-3, HCC-3, MCIF
The CCL14 protein is a CC chemokine that induces intracellular calcium changes and enzyme release in monocytes, enhances CD34 myeloid progenitor cell proliferation, and in its processed form acts as a chemotactic factor for monocytes, eosinophils, and T-cells through CCR1, CCR3, and CCR5 receptors. Based on the extremely low pLI score and high LOEUF value, this gene appears highly tolerant to loss-of-function variants, and no specific neurogenetic diseases have been definitively associated with CCL14 mutations. The predicted dominant-negative mechanism suggests that pathogenic variants, if they exist, would likely follow an autosomal dominant inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCL14 · 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