E7Q (p.Glu7Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
E7Q (p.Glu7Gln) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- rs375561490
- ClinGen CA346728450
- ClinVar RCV000561430
- ClinVar RCV002528990
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.52
- MetaSVM -0.23
- CADD 22.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)