E51K (p.Glu51Lys) variant of GCK (Hexokinase-4)
E51K (p.Glu51Lys) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- gnomAD rs2096283124
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.30
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.45
- CADD 10.90
- PolyPhen-2 0.33
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available