P68L (p.Pro68Leu) variant of TPMT (Thiopurine S-methyltransferase)
P68L (p.Pro68Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- TOPMed rs1368439131
- gnomAD rs1368439131
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available