CARD16

Chr 11

caspase recruitment domain family member 16

Also known as: COP, COP1, LLID-114769, PSEUDO-ICE

NCBI Gene: 114769 ENSG00000204397 UniProt: Q5EG05 OMIM: 615680

Enables several functions, including CARD domain binding activity; cysteine-type endopeptidase inhibitor activity; and enzyme binding activity. Involved in cellular response to lipopolysaccharide; negative regulation of interleukin-1 beta production; and regulation of signal transduction. Part of protease inhibitor complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.97

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.97LOEUF

pLI 0.383

Z-score 1.62

OE 0.21 (0.07–0.97)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.47Z-score

OE missense 1.13 (0.97–1.32)

115 obs / 101.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.21 (0.07–0.97)

0≤0.351.4

Missense OE?1.13 (0.97–1.32)

0≤0.61.4

Synonymous OE?1.31

0≤1.21.6

LoF obs/exp: 1 / 4.9Missense obs/exp: 115 / 101.6Syn Z: -1.50

Background carrier burden — how many people carry a rare variant somewhere in CARD16?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

274 rare PASS variants

Rare truncating (LoF)

1 in 1,100

46 rare PASS variants

Rare synonymous (reference)

1 in 640

107 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CARD16. 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 240	1 in 1,400
South Asian	~43k	1 in 130	1 in 4,300
Remaining (unassigned)	~30k	1 in 120	1 in 940
European (Finnish)	~27k	1 in 270	≈ 1 in 27,000
Admixed American	~22k	1 in 90	1 in 1,900
African / African American	~21k	1 in 110	1 in 400
East Asian	~20k	1 in 220	≈ 1 in 4,000
Ashkenazi Jewish	~13k	1 in 770	none seen
Middle Eastern	~2,884	1 in 190	≈ 1 in 1,400

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): 2 of 3 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 3.? see exons ↓