LRRC24

Chr 8

leucine rich repeat containing 24

Also known as: LRRC14OS

NCBI Gene: 441381 ENSG00000254402 UniProt: Q50LG9 OMIM: 620672

The LRRC24 protein is predicted to positively regulate synapse assembly and localizes to the plasma membrane and extracellular matrix. Mutations in this gene have been associated with neurodevelopmental disorders, though the clinical phenotype and inheritance pattern are not well-established from current data. This gene shows minimal constraint against loss-of-function variants (pLI = 0.0009, LOEUF = 0.96), suggesting tolerance to such mutations.

OMIM ResearchSummary from RefSeq

Predicted to enable signaling receptor activity. Predicted to be involved in positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.96

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.96LOEUF

pLI 0.001

Z-score 1.67

OE 0.51 (0.29–0.96)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.68Z-score

OE missense 1.12 (1.01–1.23)

295 obs / 264.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.51 (0.29–0.96)

0≤0.351.4

Missense OE?1.12 (1.01–1.23)

0≤0.61.4

Synonymous OE?1.39

0≤1.21.6

LoF obs/exp: 7 / 13.7Missense obs/exp: 295 / 264.0Syn Z: -3.51

Background carrier burden — how many people carry a rare variant somewhere in LRRC24?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 60

974 rare PASS variants

Rare truncating (LoF)

1 in 1,500

126 rare PASS variants

Rare synonymous (reference)

1 in 100

496 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC24. 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 80	1 in 2,000
South Asian	~43k	1 in 57	1 in 850
Remaining (unassigned)	~30k	1 in 57	1 in 1,700
European (Finnish)	~26k	1 in 300	1 in 760
Admixed American	~22k	1 in 50	1 in 1,400
African / African American	~21k	1 in 64	1 in 1,800
East Asian	~20k	1 in 55	1 in 2,700
Ashkenazi Jewish	~13k	1 in 210	1 in 970
Middle Eastern	~2,883	1 in 60	≈ 1 in 2,900

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 4.? see exons ↓