G273E (p.Gly273Glu) variant of MUTYH (Adenine DNA glycosylase)
G273E (p.Gly273Glu) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.82 / 1. The record also includes published literature and structural context.
G273E (p.Gly273Glu) variant details
- p.Gly273Glu
- rs1557471507
- ClinGen CA340134657
- ClinVar RCV000708794
- Ensembl rs1557471507
- Uncertain significance
- Gastric cancer; Familial adenomatous polyposis 2; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.73
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)