E22G (p.Glu22Gly) variant of GCK (Hexokinase-4)
E22G (p.Glu22Gly) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- TOPMed rs2096283320
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.80
- CADD 24.10
- PolyPhen-2 0.77
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available