R238W (p.Arg238Trp) variant of MUTYH (Adenine DNA glycosylase)
R238W (p.Arg238Trp) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R238W (p.Arg238Trp) variant details
- p.Arg238Trp
- rs34126013
- ClinGen CA014196
- cosmic curated COSV10610
- ClinVar RCV000164664
- Pathogenic/Likely pathogenic
- Gastric cancer; Familial adenomatous polyposis 2; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.60
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Gastric cancer; Familial adenomatous polyposis 2; Hereditary can)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. (PMID 15366000)
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)