R64S (p.Arg64Ser) variant of TPMT (Thiopurine S-methyltransferase)
R64S (p.Arg64Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R64S (p.Arg64Ser) variant details
- p.Arg64Ser
- 1000Genomes rs199762828
- ExAC rs199762828
- TOPMed rs199762828
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.52
- CADD 18.10
- PolyPhen-2 0.88
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available