Y131F (p.Tyr131Phe) variant of TPMT (Thiopurine S-methyltransferase)
Y131F (p.Tyr131Phe) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y131F (p.Tyr131Phe) variant details
- p.Tyr131Phe
- gnomAD 6-18139692-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- MetaLR 0.18
- MetaSVM -0.69
- CADD 23.60
- PolyPhen-2 0.18
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available