A56P (p.Ala56Pro) variant of MUTYH (Adenine DNA glycosylase)
A56P (p.Ala56Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
A56P (p.Ala56Pro) variant details
- p.Ala56Pro
- rs1570447125
- ClinGen CA340136806
- ClinVar RCV000794784
- Ensembl rs1570447125
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.05
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.48
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)