CFAP46

Chr 10

cilia and flagella associated protein 46

NCBI Gene: 54777ENSG00000171811UniProt: Q8IYW2OMIM: 618543

The CFAP46 protein is part of the central apparatus of the cilium axoneme and plays a role in cilium movement. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance. This gene shows moderate constraint against loss-of-function variants, affecting the respiratory system and ciliary function.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.69
Clinical Summary— CFAP46
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Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.69LOEUF
pLI 0.000
Z-score 4.62
OE 0.57 (0.47–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.91Z-score
OE missense 0.86 (0.82–0.90)
1333 obs / 1544.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.57 (0.47–0.69)
0≤0.351.4
Missense OE0.86 (0.82–0.90)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 76 / 133.7Missense obs/exp: 1333 / 1544.5Syn Z: 0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP46 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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