Q10E (p.Gln10Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10E (p.Gln10Glu) 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 0.26 / 1. The record also includes structural context.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- Ensembl rs63751099
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.15
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available