G88C (p.Gly88Cys) variant of TPMT (Thiopurine S-methyltransferase)
G88C (p.Gly88Cys) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from EBI and UniProt describe it as drug response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G88C (p.Gly88Cys) variant details
- p.Gly88Cys
- ExAC rs753545734
- TOPMed rs753545734
- gnomAD rs753545734
- Drug response
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available