V46E (p.Val46Glu) variant of IDH2 (P48735)
V46E (p.Val46Glu) 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 0.73 / 1. The record also includes population frequency data and structural context.
V46E (p.Val46Glu) variant details
- p.Val46Glu
- rs1418340668
- ClinGen CA393803092
- ClinVar RCV001036393
- TOPMed rs1418340668
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.79
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available