R140G (p.Arg140Gly) variant of IDH2 (P48735)
R140G (p.Arg140Gly) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of D-2-hydroxyglutaric aciduria 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R140G (p.Arg140Gly) variant details
- p.Arg140Gly
- rs267606870
- ClinGen CA124281
- cosmic curated COSV57472
- ClinVar RCV000015832
- Pathogenic
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (D-2-hydroxyglutaric aciduria 2)
- EBI: Pathogenic (in D2HGA2)
- UniProt: Pathogenic (in D2HGA2)
- Structural context available
- Cited in: IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. (PMID 20847235)
- Cited in: Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. (PMID 24049096)