CFAP74

Chr 1

cilia and flagella associated protein 74

Also known as: C1orf222, CILD49, KIAA1751

NCBI Gene: 85452ENSG00000142609UniProt: Q9C0B2

Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; and sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCiliary dyskinesia, primary, 49, without situs inversus

Clinical highlights

Gene-disease validity (ClinGen)
ciliary dyskinesia, primary, 49, without situs inversus · ARModerateconsider for supplementary testing
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
DN
Mechanism· predicted
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GeneReview available — CFAP74
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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?
0.79LOEUF
pLI 0.000
Z-score 2.61
OE 0.56 (0.40–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.16Z-score
OE missense 0.86 (0.79–0.93)
436 obs / 509.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.40–0.79)
0≤0.351.4
Missense OE?0.86 (0.79–0.93)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 23 / 41.1Missense obs/exp: 436 / 509.4Syn Z: 1.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP74 · 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