E14K (p.Glu14Lys) variant of GCK (Hexokinase-4)
E14K (p.Glu14Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- NCI-TCGA Cosmic COSV6788
- cosmic curated COSV67883
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.61
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.95
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available