ARL14EPL

Chr 5

ARF like GTPase 14 effector protein like

NCBI Gene: 644100ENSG00000268223UniProt: P0DKL9

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.23
LOEUF
DN
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 0.035
Z-score 1.21
OE 0.48 (0.22–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.19Z-score
OE missense 1.06 (0.89–1.26)
87 obs / 82.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.48 (0.22–1.23)
0≤0.351.4
Missense OE?1.06 (0.89–1.26)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 3 / 6.3Missense obs/exp: 87 / 82.2Syn Z: 0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARL14EPL · 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