SCFD2

Chr 4

sec1 family domain containing 2

Also known as: STXBP1L1

NCBI Gene: 152579ENSG00000184178UniProt: Q8WU76

Predicted to be involved in intracellular protein transport and vesicle-mediated transport. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
LOEUF
—
Mechanism

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 0.70
OE 0.85 (0.60–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.97 (0.89–1.06)
364 obs / 375.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.60–1.22)
0≤0.351.4
Missense OE?0.97 (0.89–1.06)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 21 / 24.7Missense obs/exp: 364 / 375.8Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCFD2 · 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