C70W (p.Cys70Trp) variant of TPMT (Thiopurine S-methyltransferase)
C70W (p.Cys70Trp) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
C70W (p.Cys70Trp) variant details
- p.Cys70Trp
- 1000Genomes rs186214874
- ExAC rs186214874
- TOPMed rs186214874
- gnomAD rs186214874
- Uncertain significance
- Missense
- MetaLR 0.88
- MetaSVM 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available