E33G (p.Glu33Gly) variant of IDH2 (P48735)
E33G (p.Glu33Gly) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- rs2151557992
- ClinGen CA393803488
- ClinVar RCV001768544
- Ensembl rs2151557992
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available