PALM3

Chr 19

paralemmin 3

NCBI Gene: 342979ENSG00000187867UniProt: A6NDB9OMIM: 621051

Predicted to enable ATP binding activity. Involved in Toll signaling pathway; negative regulation of cytokine-mediated signaling pathway; and response to lipopolysaccharide. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.484
Z-score 2.38
OE 0.20 (0.08–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.32Z-score
OE missense 0.80 (0.72–0.88)
270 obs / 338.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.08–0.62)
0≤0.351.4
Missense OE?0.80 (0.72–0.88)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 2 / 10.2Missense obs/exp: 270 / 338.1Syn Z: 2.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PALM3 · 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