SOAT1

Chr 1

sterol O-acyltransferase 1

Also known as: ACACT, ACAT, ACAT-1, ACAT1, SOAT, STAT

NCBI Gene: 6646 ENSG00000057252 UniProt: P35610 OMIM: 102642

The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.95

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.95LOEUF

pLI 0.000

Z-score 1.78

OE 0.65 (0.45–0.95)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.98Z-score

OE missense 0.84 (0.76–0.93)

256 obs / 304.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.45–0.95)

0≤0.351.4

Missense OE?0.84 (0.76–0.93)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 19 / 29.4Missense obs/exp: 256 / 304.1Syn Z: 0.28

Background carrier burden — how many people carry a rare variant somewhere in SOAT1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

611 rare PASS variants

Rare truncating (LoF)

1 in 800

129 rare PASS variants

Rare synonymous (reference)

1 in 120

249 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SOAT1. 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 720
South Asian	~43k	1 in 94	1 in 1,200
Remaining (unassigned)	~30k	1 in 100	1 in 1,200
European (Finnish)	~27k	1 in 390	1 in 1,500
Admixed American	~22k	1 in 140	1 in 1,700
African / African American	~21k	1 in 91	1 in 930
East Asian	~20k	1 in 120	1 in 4,000
Ashkenazi Jewish	~13k	1 in 210	1 in 1,400
Middle Eastern	~2,884	1 in 150	≈ 1 in 2,600

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): 13 of 15 coding exons well covered in gnomAD exomes; exons 12, 13 marginal. Genomes: all 15.? see exons ↓