W12R (p.Trp12Arg) variant of MUTYH (Adenine DNA glycosylase)
W12R (p.Trp12Arg) 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 Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
W12R (p.Trp12Arg) variant details
- p.Trp12Arg
- rs1060501343
- ClinGen CA16610127
- ClinVar RCV000468941
- Ensembl rs1060501343
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- AlphaMissense 0.18
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.54
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- 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)