SAMD10

Chr 20

sterile alpha motif domain containing 10

Also known as: C20orf136, dJ591C20, dJ591C20.7

NCBI Gene: 140700ENSG00000130590UniProt: Q9BYL1

Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.29
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

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?
1.29LOEUF
pLI 0.001
Z-score 0.97
OE 0.65 (0.36–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.79Z-score
OE missense 0.80 (0.67–0.94)
95 obs / 119.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.36–1.29)
0≤0.351.4
Missense OE?0.80 (0.67–0.94)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 6 / 9.2Missense obs/exp: 95 / 119.3Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAMD10 · 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