C133W (p.Cys133Trp) variant of TPMT (Thiopurine S-methyltransferase)
C133W (p.Cys133Trp) in TPMT (Thiopurine S-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C133W (p.Cys133Trp) variant details
- p.Cys133Trp
- rs1276273082
- gnomAD 6-18139685-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available