G283E (p.Gly283Glu) variant of MUTYH (Adenine DNA glycosylase)
G283E (p.Gly283Glu) 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 Gastric cancer; Familial adenomatous polyposis 2; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G283E (p.Gly283Glu) variant details
- p.Gly283Glu
- rs730881833
- ClinGen CA014470
- cosmic curated COSV10589
- ClinVar RCV000160754
- Pathogenic/Likely pathogenic
- Gastric cancer; Familial adenomatous polyposis 2; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Gastric cancer; Familial adenomatous polyposis 2; Hereditary can)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- 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)