G53R (p.Gly53Arg) variant of MUTYH (Adenine DNA glycosylase)
G53R (p.Gly53Arg) 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 0.34 / 1. The record also includes published literature and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs1570463568
- ClinGen CA340136925
- ClinVar RCV001012251
- Ensembl rs1570463568
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 0.93
- SIFT 0.17
- MutPred 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)