A20V (p.Ala20Val) variant of MUTYH (Adenine DNA glycosylase)
A20V (p.Ala20Val) 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. The record also includes structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- ExAC rs756437904
- gnomAD rs756437904
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available