S129L (p.Ser129Leu) variant of TPMT (Thiopurine S-methyltransferase)
S129L (p.Ser129Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
S129L (p.Ser129Leu) variant details
- p.Ser129Leu
- NCI-TCGA Cosmic COSV5942
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.14
- MetaSVM -0.84
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available