E7V (p.Glu7Val) variant of MSH2 (DNA mismatch repair protein Msh2)
E7V (p.Glu7Val) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- rs530071578
- ClinGen CA346728457
- ClinVar RCV001307185
- 1000Genomes rs530071578
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.61
- MetaSVM 0.14
- CADD 25.80
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available