W21* (p.Trp21Ter) variant of IDH2 (P48735)
W21* (p.Trp21Ter) in IDH2 (P48735) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
W21* (p.Trp21Ter) variant details
- p.Trp21Ter
- rs776341694
- ClinGen CA393803624
- ClinVar RCV003842530
- ExAC rs776341694
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 25.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available