S453L (p.Ser453Leu) variant of GCK (Hexokinase-4)
S453L (p.Ser453Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic diabetes; Hyperinsulinemic hypoglycemia, familial, 3; Permanent neonat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S453L (p.Ser453Leu) variant details
- p.Ser453Leu
- rs193922283
- ClinGen CA213760
- ClinVar RCV000517061
- ClinVar RCV000763582
- Pathogenic/Likely pathogenic
- Monogenic diabetes; Hyperinsulinemic hypoglycemia, familial, 3; Permanent neonat
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.82
- AlphaMissense 0.76
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic diabetes; Hyperinsulinemic hypoglycemia, familial, 3;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)