A56V (p.Ala56Val) variant of MUTYH (Adenine DNA glycosylase)
A56V (p.Ala56Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- Ensembl rs2149176967
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 3.73
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available