E17K (p.Glu17Lys) variant of TPMT (Thiopurine S-methyltransferase)
E17K (p.Glu17Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs772470049
- ExAC rs772470049
- TOPMed rs772470049
- gnomAD rs772470049
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.28
- CADD 21.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available