CFAP46

Chr 10

cilia and flagella associated protein 46

Also known as: C10orf123, C10orf124, C10orf92, C10orf93, TTC40, bA288G11.4, bA288G11.5, bB137A17.2

NCBI Gene: 54777ENSG00000171811UniProt: Q8IYW2OMIM: 618543

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

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
primary ciliary dyskinesia · ARLimitednot for standalone diagnostic reporting
1
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
—
Mechanism

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 OE?0.57 (0.47–0.69)
0≤0.351.4
Missense OE?0.86 (0.82–0.90)
0≤0.61.4
Synonymous OE?0.98
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.

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