S9R (p.Ser9Arg) variant of MUTYH (Adenine DNA glycosylase)
S9R (p.Ser9Arg) 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. The record also includes published literature and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- rs2524698812
- ClinGen CA340137852
- ClinVar RCV003614594
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- 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)