RPL32
Chr 3ribosomal protein L32
Also known as: L32, PP9932, eL32
RPL32 encodes a ribosomal protein component of the large 60S ribosomal subunit that synthesizes proteins in the cell. Mutations cause Diamond-Blackfan anemia, an autosomal dominant disorder characterized by congenital bone marrow failure typically presenting in infancy with severe anemia, growth retardation, and congenital malformations. The gene shows high constraint against loss-of-function variants (pLI 0.80, LOEUF 0.56), reflecting its essential role in cellular protein synthesis.
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
46 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 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 9 | 4 | 0 | 13 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 9 | 25 | 0 | 34 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPL32 · 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