T38I (p.Thr38Ile) variant of TPMT (Thiopurine S-methyltransferase)
T38I (p.Thr38Ile) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- gnomAD rs1784298622
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.18
- CADD 0.62
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available