R89H (p.Arg89His) variant of IDH2 (P48735)
R89H (p.Arg89His) 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 0.81 / 1. The record also includes population frequency data and structural context.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs371777275
- ClinGen CA7733232
- cosmic curated COSV57483
- ClinVar RCV003516262
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.81
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available