F19C (p.Phe19Cys) variant of MSH2 (DNA mismatch repair protein Msh2)
F19C (p.Phe19Cys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
F19C (p.Phe19Cys) variant details
- p.Phe19Cys
- TOPMed rs1320061495
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available