E7D (p.Glu7Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
E7D (p.Glu7Asp) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- Ensembl rs1060504423
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.46
- MetaSVM -0.76
- CADD 17.70
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available