LRRC31

Chr 3

leucine rich repeat containing 31

Also known as: HEL-S-293

NCBI Gene: 79782 ENSG00000114248 UniProt: Q6UY01

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.87

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.87LOEUF

pLI 0.000

Z-score 2.06

OE 0.54 (0.35–0.87)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.15Z-score

OE missense 1.03 (0.93–1.13)

283 obs / 276.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.54 (0.35–0.87)

0≤0.351.4

Missense OE?1.03 (0.93–1.13)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 13 / 23.9Missense obs/exp: 283 / 276.0Syn Z: -0.20

Background carrier burden — how many people carry a rare variant somewhere in LRRC31?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 75

671 rare PASS variants

Rare truncating (LoF)

1 in 400

104 rare PASS variants

Rare synonymous (reference)

1 in 230

251 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC31. 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 140	1 in 1,400
South Asian	~43k	1 in 79	1 in 720
Remaining (unassigned)	~30k	1 in 64	1 in 460
European (Finnish)	~27k	1 in 240	1 in 3,300
Admixed American	~22k	1 in 61	1 in 1,400
African / African American	~21k	1 in 70	1 in 990
East Asian	~20k	1 in 73	1 in 510
Ashkenazi Jewish	~13k	1 in 160	1 in 2,600
Middle Eastern	~2,884	1 in 63	≈ 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.

Exome coverage (gnomAD): 9 of 9 coding exons well covered in gnomAD exomes. Genomes: 8 of 9 (exon 5 below).? see exons ↓