E16G (p.Glu16Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
E16G (p.Glu16Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- ExAC rs745771647
- gnomAD rs745771647
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- ESM-1b 1.00
- AlphaMissense 0.48
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available