E11K (p.Glu11Lys) variant of TPMT (Thiopurine S-methyltransferase)
E11K (p.Glu11Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- TOPMed rs1784301907
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.18
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available