RPL8
Chr 8ribosomal protein L8
Also known as: L8, uL2
The protein is a component of the large 60S ribosomal subunit that participates in protein synthesis and likely contributes to aminoacyl-tRNA binding. Mutations cause Diamond-Blackfan anemia, an autosomal dominant ribosomopathy characterized by early-onset anemia, growth retardation, and congenital malformations. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.31), consistent with the dominant inheritance pattern observed in affected families.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
8 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 7 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 8 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPL8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools