F23I (p.Phe23Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
F23I (p.Phe23Ile) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
F23I (p.Phe23Ile) variant details
- p.Phe23Ile
- 1000Genomes rs372619120
- ExAC rs372619120
- TOPMed rs372619120
- gnomAD rs372619120
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.29
- EBI: Benign
- UniProt: Benign
- Structural context available