RPS8
Chr 1ribosomal protein S8
The RPS8 protein is a component of the small 40S ribosomal subunit and participates in ribosome assembly in the nucleolus, where it helps generate the ribonucleoprotein complexes responsible for protein synthesis. Mutations in this highly constrained gene (pLI 0.99) cause neurodevelopmental disorders with developmental delay, intellectual disability, and growth retardation, following an autosomal dominant inheritance pattern. Clinical features typically manifest in early childhood and may include microcephaly and other growth-related abnormalities.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPS8 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools