CFAP20

Chr 16

cilia and flagella associated protein 20

Also known as: BUG22, C16orf80, EVORF, GTL3, RP107, fSAP23

NCBI Gene: 29105ENSG00000070761UniProt: Q9Y6A4

Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.002
Z-score 1.55
OE 0.51 (0.28–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
2.07Z-score
OE missense 0.47 (0.38–0.58)
56 obs / 119.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.51 (0.28–1.01)
0≤0.351.4
Missense OE?0.47 (0.38–0.58)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 6 / 11.7Missense obs/exp: 56 / 119.9Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP20 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients