ABHD15

protein-coding

abhydrolase domain containing 15, the group of Abhydrolase domain containing

Gene summary

Predicted to enable monoacylglycerol lipase activity and short-chain carboxylesterase activity. Predicted to be involved in adipose tissue development and lipid catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_198147.3

Inheritance

—

ClinVar variants

U:99B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr17:29,560,547-29,567,037

External References & Databases

Ensembl (ENSG00000168792)

Transcript & Mutation Effects

hg38 • Region Span ~6.5 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 ABHD15 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198147.3. 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			99 clinvar	1 clinvar		100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	1	0	100

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198147.3	RefSeq	NP_937790.2	2	MANE Select
ENST00000307201.5	Ensembl	ENSP00000302657.3	2	MANE Select
ENST00001121045.1	Ensembl	ENSP00000790850.1	2	Standard
ENST00001138179.1	Ensembl	ENSP00000805589.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cellular lipid metabolic process

Molecular Function

hydrolase activity

Cellular Component

extracellular region
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000307201
Coding exons: 2
Length: 6591
Individuals with no LoFs: 124397
Homozygous LoFs: 5
Heterozygous LoFs: 1333
Defined: 125735
p: 0.00533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.104	273	268	1.02	0.0000147	2926
Missense (PolyPhen)		74	80.592	0.9182		824
Synonymous	-1.24	141	124	1.14	0.00000650	1054
Loss of Function	0.257	12	13.0	0.923	7.15e-7	131

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0029	0.0028	notable
Latino/Admixed American	0.0021	0.0021	notable
Ashkenazi Jewish	0.0049	0.0048	notable
East Asian	0.00044	0.00044	rare
Finnish	0.0035	0.0032	notable
European (Non-Finnish)	0.0095	0.0091	notable
South Asian	0.0011	0.0010	notable
Other	0.0065	0.0064	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.721
RVIS EVS: -0.25
RVIS percentile EVS: 36.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.295

Gene Damage Prediction

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