E16V (p.Glu16Val) variant of MSH2 (DNA mismatch repair protein Msh2)
E16V (p.Glu16Val) 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 0.88 / 1. The record also includes structural context.
E16V (p.Glu16Val) variant details
- p.Glu16Val
- ExAC rs745771647
- gnomAD rs745771647
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.63
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available