AADACL2

Chr 3

arylacetamide deacetylase like 2

NCBI Gene: 344752 ENSG00000197953 UniProt: Q6P093

Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in extracellular region and membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in extracellular region and membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.65

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.65LOEUF

pLI 0.000

Z-score -0.12

OE 1.04 (0.66–1.65)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.21Z-score

OE missense 0.96 (0.86–1.08)

206 obs / 214.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.04 (0.66–1.65)

0≤0.351.4

Missense OE?0.96 (0.86–1.08)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 12 / 11.6Missense obs/exp: 206 / 214.6Syn Z: -0.23

Background carrier burden — how many people carry a rare variant somewhere in AADACL2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 90

506 rare PASS variants

Rare truncating (LoF)

1 in 670

95 rare PASS variants

Rare synonymous (reference)

1 in 430

189 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AADACL2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 180	1 in 980
South Asian	~43k	1 in 81	1 in 440
Remaining (unassigned)	~30k	1 in 110	1 in 1,000
European (Finnish)	~27k	1 in 290	≈ 1 in 8,900
Admixed American	~22k	1 in 120	1 in 570
African / African American	~21k	1 in 140	1 in 1,000
East Asian	~20k	1 in 170	1 in 2,000
Ashkenazi Jewish	~13k	1 in 500	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 140	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓