F694V (p.Phe694Val) variant of MSH2 (DNA mismatch repair protein Msh2)
F694V (p.Phe694Val) 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 0.94 / 1. The record also includes structural context.
F694V (p.Phe694Val) variant details
- p.Phe694Val
- Ensembl rs63751409
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.89
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available