V8E (p.Val8Glu) variant of IDH2 (P48735)
V8E (p.Val8Glu) in IDH2 (P48735) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- 1000Genomes rs369445642
- ESP rs369445642
- ExAC rs369445642
- TOPMed rs369445642
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.34
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available