S49C (p.Ser49Cys) variant of MUTYH (Adenine DNA glycosylase)
S49C (p.Ser49Cys) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2. The record also includes structural context.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10058
- NCI-TCGA Cosmic COSV6274
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- UniProt: Conflicting interpretations
- Structural context available