CFAP68

Chr 11

cilia and flagella associated protein 68

Also known as: C11orf1

NCBI Gene: 64776 ENSG00000137720 UniProt: Q9H5F2

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

Research

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

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.85

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.85LOEUF

pLI 0.000

Z-score -0.73

OE 1.25 (0.80–1.85)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.16Z-score

OE missense 0.95 (0.78–1.15)

73 obs / 77.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.25 (0.80–1.85)

0≤0.351.4

Missense OE?0.95 (0.78–1.15)

0≤0.61.4

Synonymous OE?0.80

0≤1.21.6

LoF obs/exp: 12 / 9.6Missense obs/exp: 73 / 77.0Syn Z: 0.83

Background carrier burden — how many people carry a rare variant somewhere in CFAP68?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

263 rare PASS variants

Rare truncating (LoF)

1 in 440

84 rare PASS variants

Rare synonymous (reference)

1 in 600

75 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CFAP68; 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 280	1 in 510
South Asian	~43k	1 in 170	1 in 590
Remaining (unassigned)	~30k	1 in 170	1 in 460
European (Finnish)	~27k	1 in 510	1 in 1,600
Admixed American	~22k	1 in 180	1 in 2,200
African / African American	~21k	1 in 260	1 in 280
East Asian	~20k	1 in 220	1 in 750
Ashkenazi Jewish	~13k	1 in 570	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 130	≈ 1 in 960

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 ↓