LRRC14

Chr 8

leucine rich repeat containing 14

Also known as: LRRC14A

NCBI Gene: 9684ENSG00000160959UniProt: Q15048OMIM: 619368

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.03
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.000
Z-score 1.48
OE 0.57 (0.34–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.16Z-score
OE missense 0.82 (0.74–0.91)
258 obs / 316.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.34–1.03)
0≤0.351.4
Missense OE?0.82 (0.74–0.91)
0≤0.61.4
Synonymous OE?1.26
0≤1.21.6
LoF obs/exp: 8 / 14.0Missense obs/exp: 258 / 316.2Syn Z: -2.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRC14 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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