C3ORF20
Chr 3chromosome 3 open reading frame 20
The C3ORF20 protein is located in the cytoplasm, but its specific molecular function remains unclear. This gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF >1), suggesting it may tolerate complete loss of function relatively well. No established human disease associations have been reported for C3ORF20 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
41 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 6 | 0 | 0 | 6 |
Likely Benign | 0 | 4 | 0 | 3 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 10 | 23 | 3 | 36 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C3ORF20 · 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