R5S (p.Arg5Ser) variant of TPMT (Thiopurine S-methyltransferase)
R5S (p.Arg5Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- TOPMed rs1784302465
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.12
- CADD 5.43
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available