LRRIQ4

Chr 3

leucine rich repeats and IQ motif containing 4

Also known as: LRRC64

NCBI Gene: 344657 ENSG00000188306 UniProt: A6NIV6

Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

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?

1.12LOEUF

pLI 0.000

Z-score 1.17

OE 0.71 (0.46–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.20Z-score

OE missense 0.97 (0.88–1.06)

295 obs / 305.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.71 (0.46–1.12)

0≤0.351.4

Missense OE?0.97 (0.88–1.06)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 13 / 18.4Missense obs/exp: 295 / 305.0Syn Z: 1.17

Background carrier burden — how many people carry a rare variant somewhere in LRRIQ4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 91

760 rare PASS variants

Rare truncating (LoF)

1 in 1,300

93 rare PASS variants

Rare synonymous (reference)

1 in 150

313 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRIQ4. 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 170	1 in 2,000
South Asian	~43k	1 in 85	1 in 440
Remaining (unassigned)	~30k	1 in 63	1 in 1,300
European (Finnish)	~27k	1 in 220	1 in 1,800
Admixed American	~22k	1 in 73	1 in 1,000
African / African American	~21k	1 in 57	1 in 710
East Asian	~20k	1 in 70	1 in 580
Ashkenazi Jewish	~13k	1 in 440	none seen
Middle Eastern	~2,884	1 in 61	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 ↓