TCP1
Chr 6ADt-complex 1
Also known as: CCT-alpha, CCT1, CCTa, D6S230E, IDDPMGS, TCP-1-alpha
The TCP1 protein is a molecular chaperone that forms part of the TRiC complex, which folds critical cellular proteins including actin and tubulin in an ATP-dependent manner. Mutations cause autosomal dominant intellectual developmental disorder with polymicrogyria and seizures. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.26), reflecting its essential cellular role.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
138 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 | 4 | 1 | 22 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 4 | 75 | 6 | 0 | 85 |
Likely Benign | 0 | 6 | 1 | 0 | 7 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 8 | 82 | 31 | 0 | 121 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TCP1 · 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