A20E (p.Ala20Glu) variant of MUTYH (Adenine DNA glycosylase)
A20E (p.Ala20Glu) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- rs756437904
- ClinGen CA057179
- ClinVar RCV000584265
- ExAC rs756437904
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.12
- MetaLR 0.72
- MetaSVM 0.15
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.32
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)