I135Y (p.Ile135Tyr) variant of TPMT (Thiopurine S-methyltransferase)
I135Y (p.Ile135Tyr) in TPMT (Thiopurine S-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I135Y (p.Ile135Tyr) variant details
- p.Ile135Tyr
- gnomAD 6-18139681-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available