G88S (p.Gly88Ser) variant of TPMT (Thiopurine S-methyltransferase)
G88S (p.Gly88Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Thiopurine response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G88S (p.Gly88Ser) variant details
- p.Gly88Ser
- rs753545734
- ClinGen CA362838473
- ClinVar RCV000766277
- ExAC rs753545734
- drug response
- Thiopurine response
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.91
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: drug response (Thiopurine response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available