K56R (p.Lys56Arg) variant of GCK (Hexokinase-4)
K56R (p.Lys56Arg) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- Ensembl rs2096283096
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.85
- AlphaMissense 0.12
- MetaLR 0.94
- MetaSVM 1.07
- CADD 23.30
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available