E28* (p.Glu28Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
E28* (p.Glu28Ter) in MSH2 (DNA mismatch repair protein Msh2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs63751246
- ClinGen CA022387
- ClinVar RCV000076730
- ClinVar RCV000491146
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.30
- MetaLR 0.65
- MetaSVM 0.16
- PolyPhen-2 0.28
- SIFT 0.25
- EVE 0.32
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)