K119T (p.Lys119Thr) variant of TPMT (Thiopurine S-methyltransferase)
K119T (p.Lys119Thr) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K119T (p.Lys119Thr) variant details
- p.Lys119Thr
- ESP rs151149760
- ExAC rs151149760
- TOPMed rs151149760
- gnomAD rs151149760
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.55
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available