CCDC33

Chr 15

coiled-coil domain containing 33

Also known as: CC2D3, CT61, HP11097

NCBI Gene: 80125 ENSG00000140481 UniProt: Q8N5R6

Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CCDC33?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 35

1,446 rare PASS variants

Rare truncating (LoF)

1 in 310

291 rare PASS variants

Rare synonymous (reference)

1 in 62

598 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC33. 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 46	1 in 500
South Asian	~43k	1 in 33	1 in 310
Remaining (unassigned)	~30k	1 in 32	1 in 200
European (Finnish)	~27k	1 in 180	1 in 1,400
Admixed American	~22k	1 in 37	1 in 360
African / African American	~21k	1 in 34	1 in 220
East Asian	~20k	1 in 36	1 in 620
Ashkenazi Jewish	~13k	1 in 120	1 in 2,000
Middle Eastern	~2,884	1 in 39	1 in 310

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.