CFAP299

Chr 4

cilia and flagella associated protein 299

Also known as: C4orf22

NCBI Gene: 255119ENSG00000197826UniProt: Q6V702OMIM: 621388

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.64
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.64LOEUF
pLI 0.000
Z-score -0.16
OE 1.05 (0.68–1.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.57Z-score
OE missense 1.14 (1.00–1.31)
148 obs / 129.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.05 (0.68–1.64)
0≤0.351.4
Missense OE?1.14 (1.00–1.31)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 13 / 12.4Missense obs/exp: 148 / 129.7Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP299 · 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