CFAP141

Chr 1

cilia and flagella associated protein 141

Also known as: C1orf189

NCBI Gene: 388701 ENSG00000163263 UniProt: Q5VU69

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CFAP141?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 420

122 rare PASS variants

Rare truncating (LoF)

1 in 2,000

45 rare PASS variants

Rare synonymous (reference)

1 in 730

53 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CFAP141; this gene does not show strong loss-of-function constraint by this measure. 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 720	1 in 2,700
South Asian	~43k	1 in 770	1 in 2,000
Remaining (unassigned)	~30k	1 in 320	1 in 2,300
European (Finnish)	~27k	1 in 3,000	1 in 810
Admixed American	~22k	1 in 360	1 in 1,500
African / African American	~21k	1 in 300	1 in 670
East Asian	~20k	1 in 1,100	1 in 3,300
Ashkenazi Jewish	~13k	≈ 1 in 13,000	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 190	1 in 570

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 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓