LRRC47
Chr 1leucine rich repeat containing 47
The protein enables RNA binding and is predicted to be involved in phenylalanyl-tRNA aminoacylation, a process essential for protein synthesis. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay. This gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.41), indicating that complete loss of function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
193 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 85 | 0 | 85 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 76 | 12 | 0 | 88 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 77 | 100 | 0 | 177 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRRC47 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools