F136Y (p.Phe136Tyr) variant of TPMT (Thiopurine S-methyltransferase)
F136Y (p.Phe136Tyr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F136Y (p.Phe136Tyr) variant details
- p.Phe136Tyr
- gnomAD 6-18139677-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.41
- MetaLR 0.46
- MetaSVM -0.15
- CADD 21.70
- PolyPhen-2 0.12
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available