S38C (p.Ser38Cys) variant of POT1 (Q9NUX5)
S38C (p.Ser38Cys) in POT1 (Q9NUX5) 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.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- rs2485562484
- ClinGen CA369065987
- ClinVar RCV002320461
- 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)