F66L (p.Phe66Leu) variant of TPMT (Thiopurine S-methyltransferase)
F66L (p.Phe66Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- gnomAD rs1236222449
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.22
- CADD 24.60
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available