RPL22
Chr 1ribosomal protein L22
Also known as: EAP, HBP15, HBP15/L22, L22, eL22
The RPL22 protein is a component of the large 60S ribosomal subunit that synthesizes proteins in the cell. Mutations cause Diamond-Blackfan anemia, an inherited bone marrow failure syndrome with autosomal dominant inheritance. The gene shows moderate tolerance to loss-of-function variants, which is typical for ribosomal protein genes associated with Diamond-Blackfan anemia.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPL22 · 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