CLUL1

protein-coding

clusterin like 1

Gene summary

Predicted to enable misfolded protein binding activity. Predicted to be located in extracellular region. Predicted to be active in nucleus and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001393344.1

Inheritance

—

ClinVar variants

U:64B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr18:596,988-650,334

External References & Databases

Ensembl (ENSG00000079101)

Transcript & Mutation Effects

hg38 • Region Span ~53.3 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 CLUL1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 62

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393344.1. 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			62 clinvar	1 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	64	1	0	65

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_001393344.1	RefSeq	NP_001380273.1	8	MANE Select
ENST00000692774.1	Ensembl	ENSP00000510271.1	8	MANE Select
NM_001289036.3	RefSeq	NP_001275965.2	8	Standard
NM_001318522.2	RefSeq	NP_001305451.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

misfolded protein binding

Cellular Component

extracellular space
nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000400606
Coding exons: 8
Length: 53347
Individuals with no LoFs: 124707
Homozygous LoFs: 1
Heterozygous LoFs: 87
Defined: 124795
p: 0.000353

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.639	212	240	0.884	0.0000115	3155
Missense (PolyPhen)		37	54.368	0.68055		782
Synonymous	-1.08	99	86.2	1.15	0.00000454	799
Loss of Function	0.489	18	20.4	0.883	8.64e-7	267

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00032	rare
Latino/Admixed American	0.00052	0.00052	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00039	0.00039	rare
South Asian	0.00049	0.00046	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0881

Intolerance Scores

LoFtool: 0.775
RVIS EVS: 0.66
RVIS percentile EVS: 84.55

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00757

Gene Damage Prediction

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