PRELID2

Chr 5

PRELI domain containing 2

NCBI Gene: 153768ENSG00000186314UniProt: Q8N945OMIM: 620750

Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score 0.19
OE 0.95 (0.61–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.28Z-score
OE missense 0.92 (0.77–1.10)
88 obs / 95.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.95 (0.61–1.50)
0≤0.351.4
Missense OE?0.92 (0.77–1.10)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 13 / 13.8Missense obs/exp: 88 / 95.8Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRELID2 · 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