E120D (p.Glu120Asp) variant of IDH2 (P48735)
E120D (p.Glu120Asp) in IDH2 (P48735) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
E120D (p.Glu120Asp) variant details
- p.Glu120Asp
- 1000Genomes rs536071174
- ExAC rs536071174
- TOPMed rs536071174
- gnomAD rs536071174
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available