V389L (p.Val389Leu) variant of GCK (Hexokinase-4)
V389L (p.Val389Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
V389L (p.Val389Leu) variant details
- p.Val389Leu
- rs1350717554
- ClinGen CA367398665
- ClinVar RCV000499682
- gnomAD rs1350717554
- Pathogenic
- Hyperinsulinemic hypoglycemia, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.07
- MetaLR 0.60
- MetaSVM 0.03
- PolyPhen-2 0.07
- SIFT 0.52
- EVE 0.08
- ClinVar: Pathogenic (Hyperinsulinemic hypoglycemia, familial, 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)