R7K (p.Arg7Lys) variant of GCK (Hexokinase-4)
R7K (p.Arg7Lys) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- cosmic curated COSV67886
- ExAC rs746248882
- gnomAD rs746248882
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 1.89
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available