CFAP97

Chr 4

cilia and flagella associated protein 97

Also known as: KIAA1430, hmw

NCBI Gene: 57587ENSG00000164323UniProt: Q9P2B7

CFAP97 encodes a cilia and flagella associated protein that is essential for proper ciliary structure and function. Mutations cause primary ciliary dyskinesia, an autosomal recessive disorder characterized by chronic respiratory infections, bronchiectasis, and situs inversus due to defective ciliary motility. The gene shows minimal constraint against loss-of-function variants, consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

Research Assistant →
0
Active trials
1
Pubs (1 yr)
111
P/LP submissions
0%
P/LP missense
0.93
LOEUF
DN
Mechanism· predicted
Clinical Summary— CFAP97
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
110 unique Pathogenic / Likely Pathogenic· 120 VUS of 257 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.93LOEUF
pLI 0.000
Z-score 1.78
OE 0.53 (0.32–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.23Z-score
OE missense 1.04 (0.94–1.15)
284 obs / 273.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.53 (0.32–0.93)
0≤0.351.4
Missense OE1.04 (0.94–1.15)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 9 / 16.9Missense obs/exp: 284 / 273.4Syn Z: -0.04
DN
0.6550th %ile
GOF
0.4579th %ile
LOF
0.4037th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

257 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic101
Likely Pathogenic9
VUS120
Likely Benign11
Benign4
101
Pathogenic
9
Likely Pathogenic
120
VUS
11
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
101
0
101
Likely Pathogenic
0
0
9
0
9
VUS
0
93
27
0
120
Likely Benign
0
7
2
2
11
Benign
0
1
0
3
4
Total01011395245

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CFAP97 · 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.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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