E27K (p.Glu27Lys) variant of GCK (Hexokinase-4)
E27K (p.Glu27Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young; not provided. 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.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- cosmic curated COSV61755
- Uncertain significance
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.41
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available