N8K (p.Asn8Lys) variant of POT1 (Q9NUX5)
N8K (p.Asn8Lys) 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.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- rs2485562966
- ClinGen CA369066288
- ClinVar RCV002455614
- 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)