SLC50A1

Chr 1

solute carrier family 50 member 1

Also known as: HsSWEET1, RAG1AP1, SCP, SWEET1, slv

NCBI Gene: 55974ENSG00000169241UniProt: Q9BRV3

Enables glucoside transmembrane transporter activity. Predicted to be involved in carbohydrate transport. Located in Golgi apparatus and 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
1.03
LOEUF
Multiple*
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?
1.03LOEUF
pLI 0.002
Z-score 1.51
OE 0.52 (0.28–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.93Z-score
OE missense 0.77 (0.65–0.91)
97 obs / 126.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.28–1.03)
0≤0.351.4
Missense OE?0.77 (0.65–0.91)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 6 / 11.5Missense obs/exp: 97 / 126.5Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC50A1 · 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