A50D (p.Ala50Asp) variant of MUTYH (Adenine DNA glycosylase)
A50D (p.Ala50Asp) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- Ensembl rs992146999
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available