CFAP58

Chr 10AR

cilia and flagella associated protein 58

Also known as: C10orf80, CCDC147, SPGF49, bA127L20.4, bA127L20.5, bA554P13.1

NCBI Gene: 159686ENSG00000120051UniProt: Q5T655OMIM: 619129

Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece and sperm principal piece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure 49MIM #619144
AR
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.53
OE 0.77 (0.60–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.16Z-score
OE missense 1.02 (0.95–1.10)
466 obs / 456.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.77 (0.60–1.00)
0≤0.351.4
Missense OE?1.02 (0.95–1.10)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 41 / 53.0Missense obs/exp: 466 / 456.3Syn Z: 0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFAP58 · 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