Q97R (p.Gln97Arg) variant of TPMT (Thiopurine S-methyltransferase)
Q97R (p.Gln97Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q97R (p.Gln97Arg) variant details
- p.Gln97Arg
- TOPMed rs1296990696
- gnomAD rs1296990696
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.08
- CADD 6.15
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available