S383L (p.Ser383Leu) variant of GCK (Hexokinase-4)
S383L (p.Ser383Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S383L (p.Ser383Leu) variant details
- p.Ser383Leu
- rs777870079
- ClinGen CA10581499
- ClinVar RCV000225001
- ClinVar RCV000420976
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.83
- AlphaMissense 0.87
- MetaLR 0.94
- MetaSVM 1.04
- CADD 25.00
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)