G25S (p.Gly25Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
G25S (p.Gly25Ser) 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 0.32 / 1. The record also includes structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- TOPMed rs746259256
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available