D76G (p.Asp76Gly) variant of IDH2 (P48735)
D76G (p.Asp76Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
D76G (p.Asp76Gly) variant details
- p.Asp76Gly
- rs1901009838
- ClinGen CA393802877
- ClinVar RCV001233032
- Ensembl rs1901009838
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.41
- MetaLR 0.62
- MetaSVM 0.33
- PolyPhen-2 0.30
- SIFT 0.01
- EVE 0.75
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available