ACTRT3

Chr 3

actin related protein T3

Also known as: ARP-T3, ARPM1

NCBI Gene: 84517 ENSG00000184378 UniProt: Q9BYD9 OMIM: 608534

Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and male germ cell nucleus. Predicted to be active in actin cytoskeleton. [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

1.71

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 -0.20

OE 1.07 (0.67–1.71)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.22Z-score

OE missense 0.96 (0.85–1.07)

201 obs / 210.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.07 (0.67–1.71)

0≤0.351.4

Missense OE?0.96 (0.85–1.07)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 11 / 10.3Missense obs/exp: 201 / 210.1Syn Z: 1.36

Background carrier burden — how many people carry a rare variant somewhere in ACTRT3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

491 rare PASS variants

Rare truncating (LoF)

1 in 3,900

55 rare PASS variants

Rare synonymous (reference)

1 in 180

183 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ACTRT3. 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 190	1 in 4,000
South Asian	~43k	1 in 100	1 in 1,900
Remaining (unassigned)	~30k	1 in 120	1 in 2,900
European (Finnish)	~27k	1 in 1,200	none seen
Admixed American	~22k	1 in 170	≈ 1 in 11,000
African / African American	~21k	1 in 110	1 in 1,400
East Asian	~20k	1 in 260	1 in 2,200
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 210	1 in 570

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): 2 of 2 coding exons well covered in gnomAD exomes. Genomes: 1 of 2 (exon 1 below).? see exons ↓