RPL17
Chr 18ADribosomal protein L17
Also known as: DBA22, L17, PD-1, RPL23, uL22
RPL17 encodes a ribosomal protein that is a component of the large 60S ribosomal subunit responsible for protein synthesis. Mutations cause Diamond-Blackfan anemia 22, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.92, LOEUF 0.38), reflecting the essential nature of ribosomal function.
Primary Disease Associations & Inheritance
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
58 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 | 37 | 0 | 37 |
Likely Pathogenic | 1 | 0 | 2 | 0 | 3 |
VUS | 0 | 12 | 3 | 0 | 15 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 12 | 44 | 0 | 57 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPL17 · 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