R16W (p.Arg16Trp) variant of MUTYH (Adenine DNA glycosylase)
R16W (p.Arg16Trp) 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 0.61 / 1. The record also includes published literature and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs1570466955
- ClinGen CA340137297
- ClinVar RCV000803844
- ClinVar RCV005672478
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.19
- MetaLR 0.77
- MetaSVM 0.15
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.37
- 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)