D137* (p.Asp137Ter) variant of TPMT (Thiopurine S-methyltransferase)
D137* (p.Asp137Ter) in TPMT (Thiopurine S-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D137* (p.Asp137Ter) variant details
- p.Asp137Ter
- rs1784107421
- gnomAD 6-18139675-C-CA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 33.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available