C132Y (p.Cys132Tyr) variant of TPMT (Thiopurine S-methyltransferase)
C132Y (p.Cys132Tyr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C132Y (p.Cys132Tyr) variant details
- p.Cys132Tyr
- TOPMed rs72552738
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.67
- CADD 23.40
- PolyPhen-2 0.40
- SIFT 0.06
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available