G83V (p.Gly83Val) variant of TPMT (Thiopurine S-methyltransferase)
G83V (p.Gly83Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G83V (p.Gly83Val) variant details
- p.Gly83Val
- TOPMed rs1293957844
- gnomAD rs1293957844
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available