G62R (p.Gly62Arg) variant of TPMT (Thiopurine S-methyltransferase)
G62R (p.Gly62Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G62R (p.Gly62Arg) variant details
- p.Gly62Arg
- ExAC rs762310024
- gnomAD rs762310024
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.28
- CADD 21.70
- PolyPhen-2 0.91
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available