R7P (p.Arg7Pro) variant of MUTYH (Adenine DNA glycosylase)
R7P (p.Arg7Pro) 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.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs1114167687
- ClinGen CA340137876
- ClinVar RCV004523665
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.31
- 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)