R82W (p.Arg82Trp) variant of TPMT (Thiopurine S-methyltransferase)
R82W (p.Arg82Trp) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R82W (p.Arg82Trp) variant details
- p.Arg82Trp
- ESP rs111901354
- ExAC rs111901354
- TOPMed rs111901354
- gnomAD rs111901354
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available