S14W (p.Ser14Trp) variant of TPMT (Thiopurine S-methyltransferase)
S14W (p.Ser14Trp) 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.
S14W (p.Ser14Trp) variant details
- p.Ser14Trp
- ExAC rs762507236
- TOPMed rs762507236
- gnomAD rs762507236
- Uncertain significance
- Missense
- MetaLR 0.09
- MetaSVM -1.02
- SIFT 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available