L130L (p.Leu130Leu) variant of TPMT (Thiopurine S-methyltransferase)
L130L (p.Leu130Leu) in TPMT (Thiopurine S-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L130L (p.Leu130Leu) variant details
- p.Leu130Leu
- rs1784107642
- gnomAD 6-18139694-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 10.50
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available