G59D (p.Gly59Asp) variant of TPMT (Thiopurine S-methyltransferase)
G59D (p.Gly59Asp) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- ExAC rs767954730
- gnomAD rs767954730
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.10
- CADD 6.36
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available