Y73H (p.Tyr73His) variant of POT1 (Q9NUX5)
Y73H (p.Tyr73His) 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.
Y73H (p.Tyr73His) variant details
- p.Tyr73His
- rs1795852560
- ClinGen CA369061405
- ClinVar RCV003747347
- ClinVar RCV004943175
- 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)