ARL9

Chr 4

ARF like GTPase 9

NCBI Gene: 132946ENSG00000196503UniProt: Q6T311OMIM: 612405

ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.445
Z-score 1.78
OE 0.18 (0.06–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.07Z-score
OE missense 0.97 (0.79–1.21)
60 obs / 61.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.06–0.86)
0≤0.351.4
Missense OE?0.97 (0.79–1.21)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 1 / 5.5Missense obs/exp: 60 / 61.6Syn Z: 0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARL9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients