C59Y (p.Cys59Tyr) variant of POT1 (Q9NUX5)
C59Y (p.Cys59Tyr) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Tumor predisposition syndrome 3; Hereditary cancer-predisposing sy. The record also includes published literature and structural context.
C59Y (p.Cys59Tyr) variant details
- p.Cys59Tyr
- rs763187597
- ClinGen CA369061559
- ClinVar RCV001352525
- ClinVar RCV002413837
- Uncertain significance
- not provided; Tumor predisposition syndrome 3; Hereditary cancer-predisposing sy
- Missense
- ClinVar: Uncertain significance (not provided; Tumor predisposition syndrome 3; Hereditary cancer)
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)