IFI44L

protein-coding

interferon induced protein 44 like, 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. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C1orf29

MANE transcript

NM_006820.4

Inheritance

—

ClinVar variants

U:72B:10

Top phenotype

Multisystem inflammatory syndrome in children

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr1:78,619,902-78,646,145

External References & Databases

Ensembl (ENSG00000137959)

Transcript & Mutation Effects

hg38 • Region Span ~26.2 kb

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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 IFI44L variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 70

not providedTotal: 7

Multisystem inflammatory syndrome in childrenTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006820.4. 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				1 clinvar	1 clinvar	2
missense			67 clinvar	6 clinvar	2 clinvar	75
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	72	7	3	82

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006820.4	RefSeq	NP_006811.2	8	MANE Select
ENST00000370751.10	Ensembl	ENSP00000359787.4	8	MANE Select
NM_001375646.1	RefSeq	NP_001362575.1	8	Standard
NM_001375647.1	RefSeq	NP_001362576.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

immune response
defense response to virus

Molecular Function

molecular_function
GTP binding

Cellular Component

cellular_component
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370751
Coding exons: 8
Length: 26224
Individuals with no LoFs: 125695
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 125716
p: 0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.21	299	246	1.22	0.0000124	2992
Missense (PolyPhen)		93	72.115	1.2896		994
Synonymous	0.155	81	82.8	0.978	0.00000409	835
Loss of Function	-0.0981	18	17.6	1.03	8.61e-7	244

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00018	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000056	0.000053	rare
South Asian	0.00015	0.00013	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Exhibits a low antiviral activity against hepatitis C virus. {ECO:0000269|PubMed:21478870}.;

Recessive Scores

pRec: 0.0796

Intolerance Scores

LoFtool: 0.922
RVIS EVS: 1.73
RVIS percentile EVS: 96.61

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0558

Gene Damage Prediction

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