LRRC55

Chr 11

leucine rich repeat containing 55

NCBI Gene: 219527 ENSG00000183908 UniProt: Q6ZSA7 OMIM: 615213

Enables potassium channel activator activity; transmembrane transporter binding activity; and voltage-gated potassium channel activity. Involved in positive regulation of voltage-gated potassium channel activity and potassium ion transmembrane transport. Part of voltage-gated potassium channel complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in LRRC55?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

448 rare PASS variants

Rare truncating (LoF)

1 in 4,000

43 rare PASS variants

Rare synonymous (reference)

1 in 130

217 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC55. 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 170	1 in 3,400
South Asian	~43k	1 in 140	1 in 8,600
Remaining (unassigned)	~30k	1 in 150	1 in 5,000
European (Finnish)	~27k	1 in 490	1 in 4,400
Admixed American	~22k	1 in 120	1 in 4,500
African / African American	~21k	1 in 150	1 in 940
East Asian	~20k	1 in 110	1 in 1,400
Ashkenazi Jewish	~13k	1 in 1,400	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 82	none seen

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 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓