CFAP161

Chr 15

cilia and flagella associated protein 161

Also known as: C15orf26

NCBI Gene: 161502 ENSG00000156206 UniProt: Q6P656 OMIM: 621378

The protein is a microtubule inner protein that is required for motile cilia beating in the ciliary axoneme. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance, affecting the respiratory system, fertility, and potentially causing situs inversus due to defective ciliary function.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cilium assembly and flagellated sperm motility. Predicted to act upstream of or within gene expression; mRNA stabilization; and motile cilium assembly. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.83LOEUF

pLI 0.016

Z-score 2.00

OE 0.39 (0.20–0.83)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.36Z-score

OE missense 0.92 (0.81–1.05)

154 obs / 167.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.20–0.83)

0≤0.351.4

Missense OE?0.92 (0.81–1.05)

0≤0.61.4

Synonymous OE?0.77

0≤1.21.6

LoF obs/exp: 5 / 12.7Missense obs/exp: 154 / 167.0Syn Z: 1.48

Background carrier burden — how many people carry a rare variant somewhere in CFAP161?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

392 rare PASS variants

Rare truncating (LoF)

1 in 1,800

65 rare PASS variants

Rare synonymous (reference)

1 in 290

132 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CFAP161. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 200	1 in 2,000
South Asian	~43k	1 in 190	1 in 2,800
Remaining (unassigned)	~30k	1 in 170	1 in 2,700
European (Finnish)	~27k	1 in 570	none seen
Admixed American	~22k	1 in 240	1 in 3,100
African / African American	~21k	1 in 140	1 in 820
East Asian	~20k	1 in 240	1 in 1,300
Ashkenazi Jewish	~13k	1 in 1,600	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 100	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓