R60H (p.Arg60His) variant of IDH2 (P48735)
R60H (p.Arg60His) 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 0.68 / 1. The record also includes population frequency data and structural context.
R60H (p.Arg60His) variant details
- p.Arg60His
- ExAC rs757504997
- TOPMed rs757504997
- gnomAD rs757504997
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available