L130W (p.Leu130Trp) variant of TPMT (Thiopurine S-methyltransferase)
L130W (p.Leu130Trp) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L130W (p.Leu130Trp) variant details
- p.Leu130Trp
- gnomAD 6-18139695-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.81
- MetaLR 0.64
- MetaSVM 0.50
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available