N8Y (p.Asn8Tyr) variant of POT1 (Q9NUX5)
N8Y (p.Asn8Tyr) 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; Tumor predisposition syndrome 3. The record also includes published literature and structural context.
N8Y (p.Asn8Tyr) variant details
- p.Asn8Tyr
- rs1454480268
- ClinGen CA369066298
- ClinVar RCV002035616
- ClinVar RCV004045934
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tumor predisposition sy)
- 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)