W128R (p.Trp128Arg) variant of MUTYH (Adenine DNA glycosylase)
W128R (p.Trp128Arg) 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 Gastric cancer; Familial adenomatous polyposis 2; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W128R (p.Trp128Arg) variant details
- p.Trp128Arg
- rs730881832
- ClinGen CA013507
- ClinVar RCV000160751
- ClinVar RCV000212700
- Uncertain significance
- Gastric cancer; Familial adenomatous polyposis 2; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. (PMID 12853198)
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)