V22I (p.Val22Ile) variant of MUTYH (Adenine DNA glycosylase)
V22I (p.Val22Ile) 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 Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- rs1570466281
- ClinGen CA915941280
- ClinVar RCV001025231
- Ensembl rs1570466281
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; 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)