R140R (p.Arg140Arg) variant of TPMT (Thiopurine S-methyltransferase)
R140R (p.Arg140Arg) in TPMT (Thiopurine S-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R140R (p.Arg140Arg) variant details
- p.Arg140Arg
- gnomAD 6-18139037-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 11.80
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available