Q10L (p.Gln10Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10L (p.Gln10Leu) 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 0.44 / 1. The record also includes structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- Ensembl rs1573422771
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- ESM-1b 0.40
- AlphaMissense 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available