C132C (p.Cys132Cys) variant of TPMT (Thiopurine S-methyltransferase)
C132C (p.Cys132Cys) in TPMT (Thiopurine S-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C132C (p.Cys132Cys) variant details
- p.Cys132Cys
- rs1784107597
- gnomAD 6-18139688-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.71
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available