CFAP44

Chr 3AR

cilia and flagella associated protein 44

Also known as: SPGF20, WDR52

NCBI Gene: 55779ENSG00000206530UniProt: Q96MT7OMIM: 617559

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoskeleton and motile cilium. Predicted to be active in axoneme. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure 20MIM #617593
AR
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.000
Z-score 5.12
OE 0.43 (0.34–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.37Z-score
OE missense 0.87 (0.82–0.93)
801 obs / 917.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.34–0.56)
0≤0.351.4
Missense OE?0.87 (0.82–0.93)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 41 / 94.8Missense obs/exp: 801 / 917.6Syn Z: 1.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP44 · 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