I143T (p.Ile143Thr) variant of TPMT (Thiopurine S-methyltransferase)
I143T (p.Ile143Thr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I143T (p.Ile143Thr) variant details
- p.Ile143Thr
- ExAC rs769630417
- gnomAD rs769630417
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.78
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available