Y34* (p.Tyr34Ter) variant of IDH1 (O75874)
Y34* (p.Tyr34Ter) in IDH1 (O75874) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Y34* (p.Tyr34Ter) variant details
- p.Tyr34Ter
- ExAC rs753580953
- TOPMed rs753580953
- gnomAD rs753580953
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 29.80
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available