E51G (p.Glu51Gly) variant of GCK (Hexokinase-4)
E51G (p.Glu51Gly) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- gnomAD rs1334992248
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- CADD 22.40
- PolyPhen-2 0.14
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available