R37H (p.Arg37His) variant of IDH2 (P48735)
R37H (p.Arg37His) 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 0.48 / 1. The record also includes population frequency data and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- cosmic curated COSV10609
- TOPMed rs1005767629
- gnomAD rs1005767629
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.35
- CADD 27.00
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00091)
- Structural context available