CCL19

Chr 9

C-C motif chemokine ligand 19

Also known as: CKb11, ELC, MIP-3b, MIP3B, SCYA19

CCL19 encodes a CC chemokine that binds to chemokine receptor CCR7 and regulates lymphocyte trafficking, including T-cell and B-cell migration to secondary lymphoid organs and T-cell trafficking in the thymus. Mutations cause autosomal recessive combined immunodeficiency affecting T-cell and B-cell function. This immunodeficiency typically presents in infancy with recurrent infections due to impaired adaptive immune responses.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.13
Clinical SummaryCCL19
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.13LOEUF
pLI 0.317
Z-score 1.44
OE 0.24 (0.081.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.15Z-score
OE missense 0.57 (0.430.77)
33 obs / 57.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.24 (0.081.13)
00.351.4
Missense OE0.57 (0.430.77)
00.61.4
Synonymous OE0.46
01.21.6
LoF obs/exp: 1 / 4.2Missense obs/exp: 33 / 57.4Syn Z: 1.95
DN
0.7228th %ile
GOF
0.4677th %ile
LOF
0.2581th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

CCL19 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
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