C113F (p.Cys113Phe) variant of IDH2 (P48735)
C113F (p.Cys113Phe) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of D-2-hydroxyglutaric aciduria 2. The record also includes structural context.
C113F (p.Cys113Phe) variant details
- p.Cys113Phe
- rs2505796605
- ClinGen CA393802625
- ClinVar RCV002637293
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available