RAD54L
Chr 1ADSomaticRAD54 like
Also known as: HR54, RAD54A, hHR54, hRAD54
The RAD54L protein is a multifunctional ATPase that repairs DNA double-strand breaks through homologous recombination and acts as a molecular motor to guide RAD51 during the homology search process. Mutations cause autosomal dominant predisposition to adult-onset cancers including invasive ductal breast cancer, colonic adenocarcinoma, and non-Hodgkin lymphoma. The gene shows minimal constraint against loss-of-function variants in the population, consistent with its role as a cancer predisposition gene rather than a cause of severe developmental disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
RAD54L · 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
Study of Olaparib in Metastatic Renal Cell Carcinoma Patients With DNA Repair Gene Mutations
RECRUITINGA Study of PARG Inhibitor IDE161 in Participants With Advanced Solid Tumors
RECRUITINGExternal Resources
Links to major genomics databases and tools