R179H (p.Arg179His) variant of MUTYH (Adenine DNA glycosylase)
R179H (p.Arg179His) 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 colorectal cancer type X; Gastric cancer; Familial adenomatous polyposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R179H (p.Arg179His) variant details
- p.Arg179His
- rs143353451
- ClinGen CA013795
- NCI-TCGA Cosmic COSV5834
- cosmic curated COSV58344
- Pathogenic
- Familial colorectal cancer type X; Gastric cancer; Familial adenomatous polyposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Familial colorectal cancer type X; Gastric cancer; Familial aden)
- 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: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. (PMID 16557584)