W23* (p.Trp23Ter) variant of IDH1 (O75874)
W23* (p.Trp23Ter) in IDH1 (O75874) 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 0.86 / 1. The record also includes population frequency data and structural context.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- 1000Genomes rs535551892
- ExAC rs535551892
- TOPMed rs535551892
- gnomAD rs535551892
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available