TAFA5
Chr 22TAFA chemokine like family member 5
Also known as: FAM19A5, QLLK5208, TAFA-5, UNQ5208
The protein is a small secreted brain-specific chemokine or neurokine that regulates immune and nervous cells, predominantly expressed in specific brain regions. Mutations cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene shows moderate constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
159 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 | 112 | 0 | 112 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 19 | 16 | 0 | 35 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 19 | 134 | 1 | 154 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAFA5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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