E17Q (p.Glu17Gln) variant of TPMT (Thiopurine S-methyltransferase)
E17Q (p.Glu17Gln) 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 0.41 / 1. The record also includes population frequency data and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- rs772470049
- ExAC rs772470049
- TOPMed rs772470049
- gnomAD rs772470049
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available