S63I (p.Ser63Ile) variant of POT1 (Q9NUX5)
S63I (p.Ser63Ile) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
S63I (p.Ser63Ile) variant details
- p.Ser63Ile
- rs1584777788
- ClinGen CA369061513
- ClinVar RCV001351541
- ClinVar RCV004945053
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- 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)