GLYATL3

Chr 6

glycine-N-acyltransferase like 3

Also known as: C6orf140, bA28H17.2

NCBI Gene: 389396ENSG00000203972UniProt: Q5SZD4

Predicted to enable glycine N-acyltransferase activity. Predicted to be involved in lipid metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.40
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?
1.40LOEUF
pLI 0.000
Z-score 0.47
OE 0.86 (0.55–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.74Z-score
OE missense 0.83 (0.72–0.96)
132 obs / 158.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.86 (0.55–1.40)
0≤0.351.4
Missense OE?0.83 (0.72–0.96)
0≤0.61.4
Synonymous OE?0.72
0≤1.21.6
LoF obs/exp: 12 / 13.9Missense obs/exp: 132 / 158.1Syn Z: 1.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GLYATL3 · 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