W78* (p.Trp78Ter) variant of TPMT (Thiopurine S-methyltransferase)
W78* (p.Trp78Ter) in TPMT (Thiopurine S-methyltransferase) 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.
W78* (p.Trp78Ter) variant details
- p.Trp78Ter
- TOPMed rs1393608525
- gnomAD rs1393608525
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 57.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available