T141I (p.Thr141Ile) variant of TPMT (Thiopurine S-methyltransferase)
T141I (p.Thr141Ile) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T141I (p.Thr141Ile) variant details
- p.Thr141Ile
- ExAC rs775254609
- gnomAD rs775254609
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- CADD 14.70
- PolyPhen-2 0.25
- SIFT 0.05
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available