Y131H (p.Tyr131His) variant of TPMT (Thiopurine S-methyltransferase)
Y131H (p.Tyr131His) 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.
Y131H (p.Tyr131His) variant details
- p.Tyr131His
- gnomAD 6-18139693-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.82
- MetaLR 0.59
- MetaSVM 0.38
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available