E75K (p.Glu75Lys) variant of TPMT (Thiopurine S-methyltransferase)
E75K (p.Glu75Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- ExAC rs778578091
- gnomAD rs778578091
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.68
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available