S63G (p.Ser63Gly) variant of POT1 (Q9NUX5)
S63G (p.Ser63Gly) 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.
S63G (p.Ser63Gly) variant details
- p.Ser63Gly
- rs2485505016
- ClinGen CA369061519
- ClinVar RCV004521849
- 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)