E109K (p.Glu109Lys) variant of TPMT (Thiopurine S-methyltransferase)
E109K (p.Glu109Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- gnomAD rs1248105963
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available