L24P (p.Leu24Pro) variant of TPMT (Thiopurine S-methyltransferase)
L24P (p.Leu24Pro) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- ExAC rs755215484
- gnomAD rs755215484
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.40
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available