L60R (p.Leu60Arg) variant of POT1 (Q9NUX5)
L60R (p.Leu60Arg) 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.
L60R (p.Leu60Arg) variant details
- p.Leu60Arg
- rs1584777805
- ClinGen CA369061549
- ClinVar RCV001013220
- Ensembl rs1584777805
- 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)