Q45E (p.Gln45Glu) variant of MUTYH (Adenine DNA glycosylase)
Q45E (p.Gln45Glu) in MUTYH (Adenine DNA glycosylase) 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.
Q45E (p.Gln45Glu) variant details
- p.Gln45Glu
- rs2524353808
- ClinGen CA340137009
- ClinVar RCV003585667
- 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)