STAMBPL1

Chr 10

STAM binding protein like 1

Also known as: ALMalpha, AMSH-FP, AMSH-LP, bA399O19.2

NCBI Gene: 57559ENSG00000138134UniProt: Q96FJ0

Enables K63-linked deubiquitinase activity. Involved in cellular response to L-leucine and positive regulation of TORC1 signaling. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
—
Mechanism
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?
1.27LOEUF
pLI 0.000
Z-score 0.49
OE 0.90 (0.64–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.95 (0.85–1.06)
221 obs / 232.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.64–1.27)
0≤0.351.4
Missense OE?0.95 (0.85–1.06)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 23 / 25.7Missense obs/exp: 221 / 232.4Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STAMBPL1 · 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