IFI44

protein-coding

interferon induced protein 44, the group of TLDc domain containing

Gene summary

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]

MANE transcript

NM_006417.5

Inheritance

—

ClinVar variants

U:72B:6

Top phenotype

Susceptibility to severe COVID-19

gnomAD constraint

pLI —, LoF o/e 1.05

Max pathogenic AF

—

Genomic locus

chr1:78,649,796-78,664,078

External References & Databases

Ensembl (ENSG00000137965)

Transcript & Mutation Effects

hg38 • Region Span ~14.3 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to IFI44 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 68

Susceptibility to severe COVID-19Total: 2

not providedTotal: 1

Multisystem inflammatory syndrome in childrenTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006417.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar		1 clinvar	3
missense			66 clinvar	5 clinvar		71
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	72	5	1	78

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006417.5	RefSeq	NP_006408.3	8	MANE Select
ENST00000370747.9	Ensembl	ENSP00000359783.4	8	MANE Select
ENST00000438486.1	Ensembl	ENSP00000399477.1	5	Standard
ENST00000446486.1	Ensembl	ENSP00000400001.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

immune response
response to virus
response to bacterium

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370747
Coding exons: 8
Length: 14283
Individuals with no LoFs: 125618
Homozygous LoFs: 0
Heterozygous LoFs: 121
Defined: 125739
p: 0.000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.30	290	234	1.24	0.0000114	2903
Missense (PolyPhen)		72	54.314	1.3256		720
Synonymous	-1.41	105	88.1	1.19	0.00000469	855
Loss of Function	-0.207	22	21.0	1.05	0.00000121	252

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00086	0.00086	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.000055	0.000054	rare
Finnish	0.00010	0.000092	rare
European (Non-Finnish)	0.00032	0.00029	rare
South Asian	0.0020	0.0018	notable
Other	0.00070	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: This protein aggregates to form microtubular structures. {ECO:0000250}.;

Recessive Scores

pRec: 0.0767

Intolerance Scores

LoFtool: 0.945
RVIS EVS: -0.84
RVIS percentile EVS: 11.28

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.144

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium