C132R (p.Cys132Arg) variant of TPMT (Thiopurine S-methyltransferase)
C132R (p.Cys132Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C132R (p.Cys132Arg) variant details
- p.Cys132Arg
- gnomAD 6-18139690-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.76
- MetaLR 0.56
- MetaSVM 0.20
- CADD 23.70
- PolyPhen-2 0.85
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available