STOML1

Chr 15

stomatin like 1

Also known as: SLP-1, STORP, hUNC-24

NCBI Gene: 9399 ENSG00000067221 UniProt: Q9UBI4

Predicted to enable ion channel inhibitor activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in late endosome membrane and membrane raft. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in STOML1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

478 rare PASS variants

Rare truncating (LoF)

1 in 1,100

94 rare PASS variants

Rare synonymous (reference)

1 in 240

231 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for STOML1. 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 130	1 in 1,400
South Asian	~43k	1 in 120	1 in 420
Remaining (unassigned)	~30k	1 in 93	1 in 500
European (Finnish)	~27k	1 in 460	≈ 1 in 13,000
Admixed American	~22k	1 in 130	1 in 2,400
African / African American	~21k	1 in 97	1 in 990
East Asian	~20k	1 in 150	1 in 420
Ashkenazi Jewish	~13k	1 in 450	none seen
Middle Eastern	~2,884	1 in 150	≈ 1 in 1,400

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.