E12D (p.Glu12Asp) variant of TPMT (Thiopurine S-methyltransferase)
E12D (p.Glu12Asp) 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.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5942
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.42
- MetaSVM -0.07
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available