CFAP100

Chr 3

cilia and flagella associated protein 100

Also known as: CCDC37, MIA1

NCBI Gene: 348807 ENSG00000163885 UniProt: Q494V2 OMIM: 621398

The CFAP100 protein regulates assembly and activity of axonemal inner dynein arms, which are essential for ciliary and flagellar motility. Mutations cause primary ciliary dyskinesia, a disorder affecting the respiratory system, fertility, and organ positioning due to defective cilia function. This follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cilium movement; inner dynein arm assembly; and skin epidermis development. Located in ciliary basal body. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.14LOEUF

pLI 0.000

Z-score 0.88

OE 0.84 (0.63–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.06Z-score

OE missense 1.01 (0.93–1.10)

358 obs / 354.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.84 (0.63–1.14)

0≤0.351.4

Missense OE?1.01 (0.93–1.10)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 30 / 35.6Missense obs/exp: 358 / 354.8Syn Z: -1.13

Background carrier burden — how many people carry a rare variant somewhere in CFAP100?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 47

915 rare PASS variants

Rare truncating (LoF)

1 in 480

197 rare PASS variants

Rare synonymous (reference)

1 in 74

382 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CFAP100. 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 77	1 in 500
South Asian	~43k	1 in 45	1 in 340
Remaining (unassigned)	~30k	1 in 45	1 in 310
European (Finnish)	~27k	1 in 120	1 in 3,100
Admixed American	~22k	1 in 45	1 in 700
African / African American	~21k	1 in 47	1 in 190
East Asian	~20k	1 in 55	1 in 200
Ashkenazi Jewish	~13k	1 in 420	1 in 500
Middle Eastern	~2,884	1 in 47	≈ 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.