N43S (p.Asn43Ser) variant of MUTYH (Adenine DNA glycosylase)
N43S (p.Asn43Ser) 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; not p. The record also includes published literature and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- rs2524354966
- ClinGen CA340137033
- ClinVar RCV002615727
- ClinVar RCV003585359
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not p
- 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)