RPL10
Chr XXLRribosomal protein L10
Also known as: AUTSX5, DXS648, DXS648E, L10, MRXS35, NOV, QM, uL16
This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit and plays a role in forming actively translating ribosomes. Mutations cause X-linked intellectual developmental disorder with syndromic features and have been associated with autism spectrum disorders, inherited in an X-linked recessive pattern. The gene shows high constraint against loss-of-function variants, suggesting mutations predominantly cause disease through haploinsufficiency or loss-of-function mechanisms.
Definitive — sufficient evidence for diagnostic panels
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).
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
RPL10 · 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