K39R (p.Lys39Arg) variant of POT1 (Q9NUX5)
K39R (p.Lys39Arg) 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; not pr. The record also includes published literature and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs2116629538
- ClinGen CA369065965
- ClinVar RCV001360284
- ClinVar RCV003382552
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- 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)