CFAP210

Chr 2

cilia and flagella associated protein 210

Also known as: C2orf77, CCDC173

NCBI Gene: 129881ENSG00000154479UniProt: Q0VFZ6

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
Multiple*
Mechanism· predicted
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?
1.18LOEUF
pLI 0.000
Z-score 0.79
OE 0.84 (0.61–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.96 (0.86–1.06)
249 obs / 260.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.61–1.18)
0≤0.351.4
Missense OE?0.96 (0.86–1.06)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 25 / 29.6Missense obs/exp: 249 / 260.0Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP210 · 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