S53L (p.Ser53Leu) variant of BLM (RecQ-like DNA helicase BLM)
S53L (p.Ser53Leu) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
S53L (p.Ser53Leu) variant details
- p.Ser53Leu
- rs2505390394
- ClinGen CA393839511
- ClinVar RCV002398401
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)