C132G (p.Cys132Gly) variant of TPMT (Thiopurine S-methyltransferase)
C132G (p.Cys132Gly) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C132G (p.Cys132Gly) variant details
- p.Cys132Gly
- gnomAD 6-18139690-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.76
- MetaLR 0.54
- MetaSVM 0.14
- CADD 24.70
- PolyPhen-2 0.68
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available