ARL10

Chr 5

ARF like GTPase 10

Also known as: ARL10A

NCBI Gene: 285598 ENSG00000175414 UniProt: Q8N8L6 OMIM: 612405

ARL10 encodes a GTPase that binds GTP and localizes to mitochondria. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and dystonia. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq

Predicted to enable GTP binding activity; GTPase activity; and metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.23

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.23LOEUF

pLI 0.001

Z-score 1.08

OE 0.62 (0.34–1.23)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.98Z-score

OE missense 0.75 (0.64–0.89)

94 obs / 124.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.62 (0.34–1.23)

0≤0.351.4

Missense OE?0.75 (0.64–0.89)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 6 / 9.6Missense obs/exp: 94 / 124.9Syn Z: -0.81

Background carrier burden — how many people carry a rare variant somewhere in ARL10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

401 rare PASS variants

Rare truncating (LoF)

1 in 2,400

86 rare PASS variants

Rare synonymous (reference)

1 in 560

192 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ARL10. 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 2,900
South Asian	~43k	1 in 140	1 in 1,100
Remaining (unassigned)	~30k	1 in 160	1 in 870
European (Finnish)	~27k	1 in 460	1 in 1,800
Admixed American	~22k	1 in 170	1 in 1,800
African / African American	~21k	1 in 170	≈ 1 in 9,300
East Asian	~20k	1 in 170	1 in 580
Ashkenazi Jewish	~13k	1 in 610	1 in 1,500
Middle Eastern	~2,884	1 in 150	≈ 1 in 890

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