G71R (p.Gly71Arg) variant of TPMT (Thiopurine S-methyltransferase)
G71R (p.Gly71Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- ExAC rs777686348
- TOPMed rs777686348
- gnomAD rs777686348
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- CADD 28.80
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available