LRRC71

Chr 1

leucine rich repeat containing 71

Also known as: C1orf92

NCBI Gene: 149499 ENSG00000160838 UniProt: Q8N4P6

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.78

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.78LOEUF

pLI 0.000

Z-score 2.46

OE 0.50 (0.33–0.78)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.65Z-score

OE missense 0.89 (0.81–0.99)

262 obs / 293.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.50 (0.33–0.78)

0≤0.351.4

Missense OE?0.89 (0.81–0.99)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 14 / 28.1Missense obs/exp: 262 / 293.3Syn Z: 0.87

Background carrier burden — how many people carry a rare variant somewhere in LRRC71?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 86

788 rare PASS variants

Rare truncating (LoF)

1 in 520

163 rare PASS variants

Rare synonymous (reference)

1 in 240

347 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC71. 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 100	1 in 520
South Asian	~43k	1 in 88	1 in 850
Remaining (unassigned)	~30k	1 in 64	1 in 800
European (Finnish)	~27k	1 in 330	1 in 520
Admixed American	~22k	1 in 74	1 in 310
African / African American	~21k	1 in 75	1 in 280
East Asian	~20k	1 in 62	1 in 450
Ashkenazi Jewish	~13k	1 in 610	≈ 1 in 3,900
Middle Eastern	~2,884	1 in 71	1 in 260

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