S49F (p.Ser49Phe) variant of MUTYH (Adenine DNA glycosylase)
S49F (p.Ser49Phe) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- cosmic curated COSV62744
- Ensembl rs2149186919
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Population evidence available
- Structural context available