A295T (p.Ala295Thr) variant of IDH2 (P48735)
A295T (p.Ala295Thr) in IDH2 (P48735) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of D-2-hydroxyglutaric aciduria 2. The record also includes structural context.
A295T (p.Ala295Thr) variant details
- p.Ala295Thr
- Ensembl rs2151548092
- Likely pathogenic
- D-2-hydroxyglutaric aciduria 2
- Missense
- ClinVar: Likely pathogenic (D-2-hydroxyglutaric aciduria 2)
- UniProt: Likely pathogenic
- Structural context available