R82G (p.Arg82Gly) variant of TPMT (Thiopurine S-methyltransferase)
R82G (p.Arg82Gly) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R82G (p.Arg82Gly) variant details
- p.Arg82Gly
- ESP rs111901354
- ExAC rs111901354
- TOPMed rs111901354
- gnomAD rs111901354
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.53
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available