F40L (p.Phe40Leu) variant of TPMT (Thiopurine S-methyltransferase)
F40L (p.Phe40Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- gnomAD rs1446592306
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.78
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available