G117R (p.Gly117Arg) variant of TPMT (Thiopurine S-methyltransferase)
G117R (p.Gly117Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G117R (p.Gly117Arg) variant details
- p.Gly117Arg
- TOPMed rs1183234651
- gnomAD rs1183234651
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.59
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available