R242C (p.Arg242Cys) variant of MUTYH (Adenine DNA glycosylase)
R242C (p.Arg242Cys) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R242C (p.Arg242Cys) variant details
- p.Arg242Cys
- rs200495564
- ClinGen CA011806
- cosmic curated COSV58344
- ClinVar RCV000034678
- Pathogenic
- Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Familial adenomatous polyposis 2; Gastric cancer; Hereditary can)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. (PMID 25820570)
- Cited in: MUTYH Polyposis. (PMID 23035301)