C133Y (p.Cys133Tyr) variant of TPMT (Thiopurine S-methyltransferase)
C133Y (p.Cys133Tyr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C133Y (p.Cys133Tyr) variant details
- p.Cys133Tyr
- gnomAD 6-18139686-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.73
- MetaLR 0.59
- MetaSVM 0.27
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available