L11W (p.Leu11Trp) variant of MSH2 (DNA mismatch repair protein Msh2)
L11W (p.Leu11Trp) 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 0.70 / 1. The record also includes structural context.
L11W (p.Leu11Trp) variant details
- p.Leu11Trp
- Ensembl rs2103868483
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- ESM-1b 1.00
- AlphaMissense 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available