IFI27L1

protein-coding

interferon alpha inducible protein 27 like 1

Gene summary

Predicted to enable molecular adaptor activity. Involved in apoptotic process. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FAM14B

MANE transcript

NM_206949.3

Inheritance

—

ClinVar variants

U:26B:1

Top phenotype

Susceptibility to severe COVID-19

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr14:94,081,301-94,103,846

External References & Databases

Ensembl (ENSG00000165948)

Transcript & Mutation Effects

hg38 • Region Span ~22.5 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 IFI27L1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 21

Susceptibility to severe COVID-19Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_206949.3. 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						0
missense			20 clinvar	1 clinvar		21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	26	1	0	27

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 78 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_206949.3	RefSeq	NP_996832.1	4	MANE Select
ENST00000555523.6	Ensembl	ENSP00000451851.1	4	MANE Select
NM_145249.3	RefSeq	NP_660292.1	4	Standard
ENST00000393115.7	Ensembl	ENSP00000376824.3	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process

Cellular Component

mitochondrion
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000555523
Coding exons: 4
Length: 22565
Individuals with no LoFs: 125348
Homozygous LoFs: 1
Heterozygous LoFs: 399
Defined: 125748
p: 0.00159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.577	47	59.5	0.790	0.00000323	626
Missense (PolyPhen)		14	9.1156	1.5358		83
Synonymous	0.0395	23	23.2	0.990	0.00000143	242
Loss of Function	0.890	2	3.90	0.513	1.65e-7	48

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00055	0.00055	rare
Ashkenazi Jewish	0.0035	0.0035	notable
East Asian	0	0.0	absent
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00086	0.00085	rare
South Asian	0.0076	0.0075	notable
Other	0.0024	0.0024	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in the apoptotic process and has a pro- apoptotic activity. {ECO:0000269|PubMed:27673746}.;

Recessive Scores

pRec: 0.0490

Intolerance Scores

LoFtool: 0.715
RVIS EVS: 0.08
RVIS percentile EVS: 59.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0916

Gene Damage Prediction

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