PLAAT1

Chr 3

phospholipase A and acyltransferase 1

Also known as: A-C1, H-REV107, HRASLS, HRASLS1, HRSL1, HSD28, PLA/AT1, PLAAT-1

NCBI Gene: 57110 ENSG00000127252 UniProt: Q9HDD0 OMIM: 606487

Enables acyltransferase activity, transferring groups other than amino-acyl groups and glycerophospholipase activity. Involved in N-acylphosphatidylethanolamine metabolic process and phosphatidylcholine metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.56

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.56LOEUF

pLI 0.000

Z-score 0.49

OE 0.81 (0.44–1.56)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.08Z-score

OE missense 0.98 (0.83–1.16)

95 obs / 97.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.81 (0.44–1.56)

0≤0.351.4

Missense OE?0.98 (0.83–1.16)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 6 / 7.4Missense obs/exp: 95 / 97.2Syn Z: 0.46

Background carrier burden — how many people carry a rare variant somewhere in PLAAT1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

419 rare PASS variants

Rare truncating (LoF)

1 in 870

79 rare PASS variants

Rare synonymous (reference)

1 in 160

151 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PLAAT1. 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 1,000
South Asian	~43k	1 in 97	1 in 490
Remaining (unassigned)	~30k	1 in 85	1 in 990
European (Finnish)	~27k	1 in 270	1 in 480
Admixed American	~22k	1 in 130	1 in 1,700
African / African American	~21k	1 in 110	1 in 190
East Asian	~20k	1 in 140	1 in 390
Ashkenazi Jewish	~13k	1 in 830	1 in 1,300
Middle Eastern	~2,884	1 in 81	1 in 220

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓