IFI44

Chr 1

interferon induced protein 44

Also known as: MTAP44, TLDC5, p44

NCBI Gene: 10561 ENSG00000137965 UniProt: Q8TCB0 OMIM: 610468

The IFI44 protein aggregates to form microtubular structures and is predicted to be involved in cellular immune responses to viral and bacterial infections. This gene is not constrained against loss-of-function variants (LOEUF 1.496), and no established Mendelian diseases have been definitively linked to IFI44 mutations in the current literature.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in immune response. Predicted to act upstream of or within cellular response to virus and response to bacterium. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

—

P/LP missense

1.50

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.50LOEUF

pLI 0.000

Z-score -0.21

OE 1.05 (0.75–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.30Z-score

OE missense 1.24 (1.13–1.37)

290 obs / 234.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.05 (0.75–1.50)

0≤0.351.4

Missense OE?1.24 (1.13–1.37)

0≤0.61.4

Synonymous OE?1.19

0≤1.21.6

LoF obs/exp: 22 / 21.0Missense obs/exp: 290 / 234.0Syn Z: -1.41

Background carrier burden — how many people carry a rare variant somewhere in IFI44?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 64

681 rare PASS variants

Rare truncating (LoF)

1 in 530

114 rare PASS variants

Rare synonymous (reference)

1 in 130

237 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for IFI44. 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 99	1 in 1,000
South Asian	~43k	1 in 60	1 in 400
Remaining (unassigned)	~30k	1 in 71	1 in 380
European (Finnish)	~27k	1 in 150	1 in 3,800
Admixed American	~22k	1 in 79	1 in 860
African / African American	~21k	1 in 75	1 in 330
East Asian	~20k	1 in 89	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 240	1 in 320
Middle Eastern	~2,884	1 in 87	≈ 1 in 2,900

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): 7 of 8 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 8.? see exons ↓