Q4E (p.Gln4Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4E (p.Gln4Glu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- rs878853797
- ClinGen CA346728414
- ClinVar RCV004522919
- TOPMed rs878853797
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.79
- MetaSVM 0.61
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)