ABHD16B

Chr 20

abhydrolase domain containing 16B

Also known as: C20orf135, dJ591C20.1

NCBI Gene: 140701ENSG00000183260UniProt: Q9H3Z7

Predicted to enable glycerophospholipase activity and monoacylglycerol lipase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.19
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.000
Z-score 1.10
OE 0.66 (0.39–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.51Z-score
OE missense 0.92 (0.83–1.01)
290 obs / 315.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.39–1.19)
0≤0.351.4
Missense OE?0.92 (0.83–1.01)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 8 / 12.1Missense obs/exp: 290 / 315.4Syn Z: 1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ABHD16B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients