R37C (p.Arg37Cys) variant of IDH2 (P48735)
R37C (p.Arg37Cys) 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 0.60 / 1. The record also includes population frequency data and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- rs1567261734
- ClinGen CA393803447
- ClinVar RCV002038981
- NCI-TCGA TCGA novel
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available