A11V (p.Ala11Val) variant of GCK (Hexokinase-4)
A11V (p.Ala11Val) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs749422860
- TOPMed rs749422860
- gnomAD rs749422860
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available