SLC50A1

Chr 1

solute carrier family 50 member 1

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

NCBI Gene: 55974 ENSG00000169241 UniProt: Q9BRV3 OMIM: 613683

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

Multiple*

Mechanism· predicted

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

Background carrier burden — how many people carry a rare variant somewhere in SLC50A1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

275 rare PASS variants

Rare truncating (LoF)

1 in 1,200

65 rare PASS variants

Rare synonymous (reference)

1 in 570

86 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SLC50A1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 280	1 in 2,600
South Asian	~43k	1 in 390	1 in 3,100
Remaining (unassigned)	~30k	1 in 210	1 in 480
European (Finnish)	~27k	1 in 550	≈ 1 in 13,000
Admixed American	~22k	1 in 260	1 in 730
African / African American	~21k	1 in 200	1 in 2,500
East Asian	~20k	1 in 460	1 in 500
Ashkenazi Jewish	~13k	1 in 520	none seen
Middle Eastern	~2,884	1 in 290	1 in 410

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓