Y107C (p.Tyr107Cys) variant of IDH2 (P48735)
Y107C (p.Tyr107Cys) 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 0.38 / 1. The record also includes structural context.
Y107C (p.Tyr107Cys) variant details
- p.Tyr107Cys
- rs1596076050
- ClinGen CA393802666
- ClinVar RCV001373998
- TOPMed rs1596076050
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.28
- MetaLR 0.31
- MetaSVM -0.51
- PolyPhen-2 0.34
- SIFT 0.06
- EVE 0.16
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available