G3D (p.Gly3Asp) variant of IDH2 (P48735)
G3D (p.Gly3Asp) in IDH2 (P48735) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of D-2-hydroxyglutaric aciduria 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- ExAC rs754014307
- TOPMed rs754014307
- gnomAD rs754014307
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.53
- CADD 24.00
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available