CFAP70

Chr 10AR

cilia and flagella associated protein 70

Also known as: SPGF41, TTC18

NCBI Gene: 118491ENSG00000156042UniProt: Q5T0N1OMIM: 618661

Predicted to be involved in cilium assembly and cilium movement. Predicted to act upstream of or within several processes, including maintenance of cell number; single fertilization; and spermatid development. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spermatogenic failure 41MIM #618670
AR
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.54LOEUF
pLI 0.000
Z-score 4.54
OE 0.38 (0.28–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.12Z-score
OE missense 0.75 (0.69–0.81)
428 obs / 570.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.38 (0.28–0.54)
0≤0.351.4
Missense OE?0.75 (0.69–0.81)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 24 / 62.9Missense obs/exp: 428 / 570.3Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP70 · 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