F56L (p.Phe56Leu) variant of TPMT (Thiopurine S-methyltransferase)
F56L (p.Phe56Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- gnomAD rs1194645282
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available