CFAP43
Chr 10ADARcilia and flagella associated protein 43
Primary Disease Associations & Inheritance
Hydrocephalus, normal pressure, 1MIM #236690
AD
Spermatogenic failure 19MIM #617592
AR
Clinical highlights
Gene-disease validity (ClinGen)
spermatogenic failure 19 · ARDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 3.94
OE 0.56 (0.44–0.70)
Typical tolerance to LoF variation
Missense Constraint?
0.77Z-score
OE missense 0.93 (0.87–0.98)
781 obs / 844.2 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.56 (0.44–0.70)
0≤0.351.4
Missense OE?0.93 (0.87–0.98)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 51 / 91.8Missense obs/exp: 781 / 844.2Syn Z: 0.35
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
CFAP43 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools