L11M (p.Leu11Met) variant of MSH2 (DNA mismatch repair protein Msh2)
L11M (p.Leu11Met) 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 0.39 / 1. The record also includes population frequency data and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- Ensembl rs2103868361
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.56
- MetaSVM -0.28
- CADD 18.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available