GLYAT

Chr 11

glycine-N-acyltransferase

Also known as: ACGNAT, GAT

NCBI Gene: 10249 ENSG00000149124 UniProt: Q6IB77 OMIM: 607424

The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.71

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.71LOEUF

pLI 0.000

Z-score -0.21

OE 1.07 (0.67–1.71)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.91Z-score

OE missense 1.20 (1.07–1.36)

187 obs / 155.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.07 (0.67–1.71)

0≤0.351.4

Missense OE?1.20 (1.07–1.36)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 11 / 10.3Missense obs/exp: 187 / 155.2Syn Z: 0.48

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 97

443 rare PASS variants

Rare truncating (LoF)

1 in 1,200

75 rare PASS variants

Rare synonymous (reference)

1 in 220

149 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GLYAT. 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 140	1 in 920
South Asian	~43k	1 in 95	1 in 2,700
Remaining (unassigned)	~30k	1 in 82	1 in 2,500
European (Finnish)	~27k	1 in 560	≈ 1 in 26,000
Admixed American	~22k	1 in 63	1 in 2,200
African / African American	~21k	1 in 91	1 in 1,600
East Asian	~20k	1 in 170	1 in 2,000
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 120	none seen

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): 1 of 5 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5 marginal. Genomes: all 5.? see exons ↓