R10C (p.Arg10Cys) variant of MUTYH (Adenine DNA glycosylase)
R10C (p.Arg10Cys) 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 0.29 / 1. The record also includes published literature and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs1570591700
- ClinGen CA340137847
- ClinVar RCV001189247
- Ensembl rs1570591700
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)