E109V (p.Glu109Val) variant of TPMT (Thiopurine S-methyltransferase)
E109V (p.Glu109Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E109V (p.Glu109Val) variant details
- p.Glu109Val
- gnomAD rs1195203273
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available