E12* (p.Glu12Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
E12* (p.Glu12Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- rs917968387
- ClinGen CA346728508
- ClinVar RCV001295935
- ClinVar RCV003449847
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.49
- MetaLR 0.60
- MetaSVM 0.17
- CADD 46.00
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)