R271W (p.Arg271Trp) variant of MUTYH (Adenine DNA glycosylase)
R271W (p.Arg271Trp) 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 not provided; Gastric cancer; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R271W (p.Arg271Trp) variant details
- p.Arg271Trp
- rs769237459
- ClinGen CA059263
- NCI-TCGA Cosmic COSV5834
- cosmic curated COSV58343
- Pathogenic/Likely pathogenic
- not provided; Gastric cancer; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gastric cancer; Familial adenomatous polyposis 2)
- 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: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. (PMID 16557584)