G85R (p.Gly85Arg) variant of IDH2 (P48735)
G85R (p.Gly85Arg) 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 0.91 / 1. The record also includes population frequency data and structural context.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- rs1316240101
- NCI-TCGA Cosmic COSV5747
- cosmic curated COSV57472
- gnomAD rs1316240101
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.97
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available