T55P (p.Thr55Pro) variant of TPMT (Thiopurine S-methyltransferase)
T55P (p.Thr55Pro) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T55P (p.Thr55Pro) variant details
- p.Thr55Pro
- ExAC rs759043462
- gnomAD rs759043462
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.33
- CADD 17.90
- PolyPhen-2 0.39
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available