W78C (p.Trp78Cys) variant of TPMT (Thiopurine S-methyltransferase)
W78C (p.Trp78Cys) 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 0.83 / 1. The record also includes population frequency data and structural context.
W78C (p.Trp78Cys) variant details
- p.Trp78Cys
- rs1256618794
- ClinGen CA362838562
- ClinVar RCV000766276
- TOPMed rs1256618794
- drug response
- Thiopurine response
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.81
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: drug response (Thiopurine response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available