T55I (p.Thr55Ile) variant of TPMT (Thiopurine S-methyltransferase)
T55I (p.Thr55Ile) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- TOPMed rs1392348310
- gnomAD rs1392348310
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.22
- CADD 21.70
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available