AGBL3

Chr 7

AGBL carboxypeptidase 3

Also known as: CCP3

NCBI Gene: 340351ENSG00000146856UniProt: Q8NEM8

Enables metallocarboxypeptidase activity. Involved in protein side chain deglutamylation. Predicted to be located in cytosol. Predicted to be active in centriole and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
33
Pathogenic / LP
161
ClinVar variants
2
Pubs (1 yr)
1.9
Missense Z
1.03
LOEUF
Clinical Summary— AGBL3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 114 VUS of 161 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.03LOEUF
pLI 0.000
Z-score 1.38
OE 0.76 (0.56–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.92Z-score
OE missense 0.74 (0.68–0.81)
335 obs / 449.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.76 (0.56–1.03)
0≤0.351.4
Missense OE0.74 (0.68–0.81)
0≤0.61.4
Synonymous OE0.77
0≤1.21.6
LoF obs/exp: 29 / 38.2Missense obs/exp: 335 / 449.8Syn Z: 2.28

ClinVar Variant Classifications

161 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic1
VUS114
Likely Benign7
Benign7
32
Pathogenic
1
Likely Pathogenic
114
VUS
7
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
32
0
32
Likely Pathogenic
0
0
1
0
1
VUS
0
110
4
0
114
Likely Benign
0
6
0
1
7
Benign
0
4
1
2
7
Total0120383161

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

AGBL3 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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