T16I (p.Thr16Ile) variant of TPMT (Thiopurine S-methyltransferase)
T16I (p.Thr16Ile) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- ExAC rs747615886
- TOPMed rs747615886
- gnomAD rs747615886
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.18
- CADD 5.14
- PolyPhen-2 0.04
- SIFT 0.30
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available