TOMM20L

protein-coding

translocase of outer mitochondrial membrane 20 like

Gene summary

Predicted to enable mitochondrion targeting sequence binding activity. Predicted to contribute to transmembrane protein transporter activity. Predicted to be involved in protein import into mitochondrial matrix and tRNA import into mitochondrion. Predicted to be located in mitochondrial outer membrane. Predicted to be part of mitochondrial outer membrane translocase complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_207377.3

Inheritance

—

ClinVar variants

U:31B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr14:58,395,928-58,408,702

External References & Databases

Ensembl (ENSG00000196860)

Transcript & Mutation Effects

hg38 • Region Span ~12.8 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 TOMM20L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 31

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207377.3. 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			1 clinvar			1
missense			28 clinvar	3 clinvar		31
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	31	3	0	34

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207377.3	RefSeq	NP_997260.1	5	MANE Select
ENST00000360945.7	Ensembl	ENSP00000354204.2	5	MANE Select
ENST00000557754.1	Ensembl	ENSP00000451683.1	3	Standard
ENST00001099809.1	Ensembl	ENSP00000769615.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

tRNA import into mitochondrion
protein import into mitochondrial matrix
mitochondrial outer membrane translocase complex assembly

Molecular Function

protein transmembrane transporter activity
P-P-bond-hydrolysis-driven protein transmembrane transporter activity
mitochondrion targeting sequence binding

Cellular Component

mitochondrial outer membrane translocase complex
integral component of mitochondrial outer membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000360945
Coding exons: 5
Length: 12786
Individuals with no LoFs: 125697
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125748
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.791	58	77.6	0.747	0.00000402	975
Missense (PolyPhen)		14	17.422	0.80358		223
Synonymous	-0.345	33	30.6	1.08	0.00000159	281
Loss of Function	0.363	7	8.11	0.863	3.42e-7	105

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00050	0.00050	rare
East Asian	0.00066	0.00065	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.00033	0.00033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0614

Intolerance Scores

LoFtool: 0.733
RVIS EVS: 0.48
RVIS percentile EVS: 78.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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