R19P (p.Arg19Pro) variant of MUTYH (Adenine DNA glycosylase)
R19P (p.Arg19Pro) 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; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- rs587780081
- ClinGen CA340137251
- ClinVar RCV000986307
- ClinVar RCV005672538
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM -0.38
- PolyPhen-2 0.23
- SIFT 0.18
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- 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)