LRRC24

Chr 8

leucine rich repeat containing 24

Also known as: LRRC14OS

NCBI Gene: 441381ENSG00000254402UniProt: Q50LG9OMIM: 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.

OMIMResearchSummary from RefSeq
MultiplemechanismLOEUF 0.96
Clinical Summary— LRRC24
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
56 unique Pathogenic / Likely Pathogenic· 103 VUS of 170 total submissions
Explore recent and relevant literature in Research Assistant →

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 OE0.51 (0.29–0.96)
0≤0.351.4
Missense OE1.12 (1.01–1.23)
0≤0.61.4
Synonymous OE1.39
0≤1.21.6
LoF obs/exp: 7 / 13.7Missense obs/exp: 295 / 264.0Syn Z: -3.51
DN
0.75top 25%
GOF
0.75top 25%
LOF
0.3452th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

170 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic51
Likely Pathogenic5
VUS103
Likely Benign8
Benign2
51
Pathogenic
5
Likely Pathogenic
103
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
51
0
51
Likely Pathogenic
0
0
5
0
5
VUS
0
89
14
0
103
Likely Benign
0
5
1
2
8
Benign
0
0
2
0
2
Total094732169

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LRRC24 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients