E52K (p.Glu52Lys) variant of GCK (Hexokinase-4)
E52K (p.Glu52Lys) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- TOPMed rs2096283117
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.63
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 0.54
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available