I128V (p.Ile128Val) variant of TPMT (Thiopurine S-methyltransferase)
I128V (p.Ile128Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I128V (p.Ile128Val) variant details
- p.Ile128Val
- TOPMed rs1217971473
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.65
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available