RPL38
Chr 17ribosomal protein L38
Also known as: L38, eL38
The protein is a component of the large 60S ribosomal subunit that catalyzes protein synthesis in the cytoplasm. Mutations cause autosomal dominant disease through loss-of-function mechanisms, as evidenced by high intolerance to loss-of-function variants (pLI 0.83) and haploinsufficiency (LOEUF 0.52). The specific neurological phenotype associated with RPL38 mutations is not defined in the available data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPL38 · 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 →External Resources
Links to major genomics databases and tools