A20S (p.Ala20Ser) variant of MUTYH (Adenine DNA glycosylase)
A20S (p.Ala20Ser) 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; Familial adenomatous polyposis 2. The record also includes published literature and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- rs2524365524
- ClinGen CA340137244
- ClinVar RCV002296593
- ClinVar RCV005674978
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)