REELD1

Chr 4

reeler domain containing 1

NCBI Gene: 345051ENSG00000250673UniProt: A0A1B0GV85

Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -0.53
OE 1.29 (0.63–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.91 (0.74–1.12)
62 obs / 68.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.29 (0.63–1.91)
0≤0.351.4
Missense OE?0.91 (0.74–1.12)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 5 / 3.9Missense obs/exp: 62 / 68.4Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

REELD1 · 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