L130F (p.Leu130Phe) variant of TPMT (Thiopurine S-methyltransferase)
L130F (p.Leu130Phe) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L130F (p.Leu130Phe) variant details
- p.Leu130Phe
- gnomAD 6-18139694-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.68
- MetaLR 0.47
- MetaSVM -0.09
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available