LRRC20

Chr 10

leucine rich repeat containing 20

NCBI Gene: 55222ENSG00000172731UniProt: Q8TCA0

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.13
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.13LOEUF
pLI 0.044
Z-score 1.36
OE 0.44 (0.20–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.46Z-score
OE missense 0.88 (0.76–1.03)
110 obs / 124.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.20–1.13)
0≤0.351.4
Missense OE?0.88 (0.76–1.03)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 3 / 6.8Missense obs/exp: 110 / 124.6Syn Z: -0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRC20 · 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