G23E (p.Gly23Glu) variant of MUTYH (Adenine DNA glycosylase)
G23E (p.Gly23Glu) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- rs1553131563
- ClinGen CA340137198
- NCI-TCGA Cosmic COSV6274
- cosmic curated COSV62742
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.11
- MetaLR 0.68
- MetaSVM -0.22
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.23
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)