SAMD3

Chr 6

sterile alpha motif domain containing 3

ENSG00000164483UniProt: Q8N6K7

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
—
Mechanism
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.64
OE 0.87 (0.63–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.89–1.09)
261 obs / 266.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.63–1.22)
0≤0.351.4
Missense OE?0.98 (0.89–1.09)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 25 / 28.7Missense obs/exp: 261 / 266.2Syn Z: -0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAMD3 · 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