E7G (p.Glu7Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
E7G (p.Glu7Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- rs530071578
- ClinGen CA16610839
- ClinVar RCV000461641
- ClinVar RCV000567075
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.55
- MetaSVM -0.03
- CADD 26.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- 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)