R242H (p.Arg242His) variant of MUTYH (Adenine DNA glycosylase)
R242H (p.Arg242His) 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 Diffuse midline glioma, H3 K27-altered; Gastric cancer; Familial adenomatous pol. 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.
R242H (p.Arg242His) variant details
- p.Arg242His
- rs140342925
- ClinGen CA014226
- cosmic curated COSV58343
- ClinVar RCV000129105
- Pathogenic/Likely pathogenic
- Diffuse midline glioma, H3 K27-altered; Gastric cancer; Familial adenomatous pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.68
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Diffuse midline glioma, H3 K27-altered; Gastric cancer; Familial)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Population evidence available
- Structural context available
- Cited in: Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. (PMID 16134147)
- Cited in: Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. (PMID 16287072)