G3S (p.Gly3Ser) variant of TPMT (Thiopurine S-methyltransferase)
G3S (p.Gly3Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- TOPMed rs1784302813
- gnomAD rs1784302813
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- CADD 1.57
- PolyPhen-2 0.03
- SIFT 0.54
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available