CFAP300

Chr 11

cilia and flagella associated protein 300

Also known as: C11orf70, CILD38, DNAAF17, FBB5

NCBI Gene: 85016 ENSG00000137691 UniProt: Q9BRQ4

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCiliary dyskinesia, primary, 38

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · ciliary dyskinesia, primary, 38 · AR · ClinGen 2022

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

LOF

Mechanism· G2P

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?

1.14LOEUF

pLI 0.000

Z-score 1.15

OE 0.69 (0.43–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.10Z-score

OE missense 0.98 (0.85–1.12)

137 obs / 140.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.69 (0.43–1.14)

0≤0.351.4

Missense OE?0.98 (0.85–1.12)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 11 / 16.0Missense obs/exp: 137 / 140.4Syn Z: 0.14

Background carrier burden — how many people carry a rare variant somewhere in CFAP300?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

403 rare PASS variants

Rare truncating (LoF)

1 in 1,100

75 rare PASS variants

Rare synonymous (reference)

1 in 230

114 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CFAP300. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 210	1 in 2,100
South Asian	~43k	1 in 170	1 in 880
Remaining (unassigned)	~30k	1 in 160	1 in 1,700
European (Finnish)	~27k	1 in 550	≈ 1 in 13,000
Admixed American	~22k	1 in 170	1 in 1,400
African / African American	~21k	1 in 200	1 in 1,200
East Asian	~20k	1 in 280	1 in 2,400
Ashkenazi Jewish	~13k	1 in 510	none seen
Middle Eastern	~2,884	1 in 140	≈ 1 in 2,500

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 7 coding exons well covered in gnomAD exomes; exons 3, 7 marginal. Genomes: all 7.? see exons ↓