E12Q (p.Glu12Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
E12Q (p.Glu12Gln) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- rs917968387
- ClinGen CA46666533
- ClinVar RCV000574098
- ClinVar RCV000818613
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.60
- MetaSVM 0.17
- PolyPhen-2 0.00
- SIFT 0.06
- 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)
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