Q47H (p.Gln47His) variant of TPMT (Thiopurine S-methyltransferase)
Q47H (p.Gln47His) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- TOPMed rs1325058326
- gnomAD rs1325058326
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.45
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available