V20E (p.Val20Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
V20E (p.Val20Glu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- Ensembl rs2103870459
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- ESM-1b 1.00
- AlphaMissense 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available