R82Q (p.Arg82Gln) variant of TPMT (Thiopurine S-methyltransferase)
R82Q (p.Arg82Gln) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- ESP rs142214108
- ExAC rs142214108
- TOPMed rs142214108
- gnomAD rs142214108
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available