CFAP96
Chr 4cilia and flagella associated protein 96
Also known as: C4orf47
The protein localizes to non-motile cilia, centrosomes, and cytoplasmic microtubules where it likely functions in ciliary structure or signaling. Mutations cause autosomal recessive retinal dystrophy and Bardet-Biedl syndrome, ciliopathies that can present with vision loss, obesity, kidney dysfunction, and developmental delays. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where one functional copy is insufficient.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
218 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 103 | 0 | 104 |
Likely Pathogenic | 1 | 0 | 11 | 0 | 12 |
VUS | 1 | 46 | 22 | 0 | 69 |
Likely Benign | 1 | 2 | 5 | 2 | 10 |
Benign | 0 | 1 | 2 | 3 | 6 |
Conflicting | — | 1 | |||
| Total | 4 | 49 | 143 | 5 | 202 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CFAP96 · 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 →No open access results found
External Resources
Links to major genomics databases and tools