I115T (p.Ile115Thr) variant of TPMT (Thiopurine S-methyltransferase)
I115T (p.Ile115Thr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I115T (p.Ile115Thr) variant details
- p.Ile115Thr
- TOPMed rs934835159
- gnomAD rs934835159
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.34
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available