LRRC57

Chr 15

leucine rich repeat containing 57

NCBI Gene: 255252 ENSG00000180979 UniProt: Q8N9N7

Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

Research

Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.11

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.11LOEUF

pLI 0.001

Z-score 1.31

OE 0.56 (0.31–1.11)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.93Z-score

OE missense 0.77 (0.65–0.91)

99 obs / 128.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.56 (0.31–1.11)

0≤0.351.4

Missense OE?0.77 (0.65–0.91)

0≤0.61.4

Synonymous OE?0.80

0≤1.21.6

LoF obs/exp: 6 / 10.6Missense obs/exp: 99 / 128.8Syn Z: 1.17

Background carrier burden — how many people carry a rare variant somewhere in LRRC57?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 580

253 rare PASS variants

Rare truncating (LoF)

1 in 6,900

45 rare PASS variants

Rare synonymous (reference)

1 in 280

115 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC57. 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 710	1 in 5,100
South Asian	~43k	1 in 200	1 in 5,300
Remaining (unassigned)	~30k	1 in 590	≈ 1 in 15,000
European (Finnish)	~27k	1 in 1,600	≈ 1 in 27,000
Admixed American	~22k	1 in 720	1 in 4,400
African / African American	~21k	1 in 260	≈ 1 in 8,400
East Asian	~20k	1 in 320	none seen
Ashkenazi Jewish	~13k	≈ 1 in 3,200	none seen
Middle Eastern	~2,884	≈ 1 in 580	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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓