R5G (p.Arg5Gly) variant of GCK (Hexokinase-4)
R5G (p.Arg5Gly) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD rs1212859987
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.52
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available