G126R (p.Gly126Arg) variant of TPMT (Thiopurine S-methyltransferase)
G126R (p.Gly126Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G126R (p.Gly126Arg) variant details
- p.Gly126Arg
- 1000Genomes rs200917792
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.51
- CADD 22.40
- PolyPhen-2 0.40
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available