E22Q (p.Glu22Gln) variant of GCK (Hexokinase-4)
E22Q (p.Glu22Gln) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- cosmic curated COSV61754
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.62
- CADD 22.20
- PolyPhen-2 0.68
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available