E52* (p.Glu52Ter) variant of IDH2 (P48735)
E52* (p.Glu52Ter) in IDH2 (P48735) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- cosmic curated COSV57484
- ExAC rs769970669
- gnomAD rs769970669
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available