L11S (p.Leu11Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
L11S (p.Leu11Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L11S (p.Leu11Ser) variant details
- p.Leu11Ser
- rs2103868483
- ClinGen CA346728496
- ClinVar RCV002000962
- Ensembl rs2103868483
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.76
- MetaSVM 0.67
- CADD 26.20
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available