E98* (p.Glu98Ter) variant of TPMT (Thiopurine S-methyltransferase)
E98* (p.Glu98Ter) in TPMT (Thiopurine S-methyltransferase) 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 0.78 / 1. The record also includes population frequency data and structural context.
E98* (p.Glu98Ter) variant details
- p.Glu98Ter
- rs72552739
- ESP rs72552739
- ExAC rs72552739
- TOPMed rs72552739
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 41.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available