S100G (p.Ser100Gly) variant of GCK (Hexokinase-4)
S100G (p.Ser100Gly) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S100G (p.Ser100Gly) variant details
- p.Ser100Gly
- TOPMed rs2096281753
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available