E12K (p.Glu12Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
E12K (p.Glu12Lys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- Ensembl rs917968387
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- ESM-1b 0.65
- AlphaMissense 0.88
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available