R5K (p.Arg5Lys) variant of GCK (Hexokinase-4)
R5K (p.Arg5Lys) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- TOPMed rs1339026807
- gnomAD rs1339026807
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.50
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available