RPS15A
Chr 16ADribosomal protein S15a
Also known as: DBA20, S15a, uS8
RPS15A encodes a ribosomal protein that is a component of the small 40S ribosomal subunit and is required for proper erythropoiesis. Mutations cause Diamond-Blackfan anemia 20, a disorder primarily affecting red blood cell production, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.559), reflecting its essential role in ribosome function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
59 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 | 14 | 1 | 15 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 8 | 6 | 0 | 14 |
Likely Benign | 0 | 0 | 6 | 17 | 23 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 0 | 8 | 28 | 18 | 54 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPS15A · 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