S441L (p.Ser441Leu) variant of GCK (Hexokinase-4)
S441L (p.Ser441Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S441L (p.Ser441Leu) variant details
- p.Ser441Leu
- rs1286804191
- ClinGen CA367397015
- ClinVar RCV000499850
- ClinVar RCV003313087
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.98
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)
- Cited in: Neonatal diabetes mellitus due to complete glucokinase deficiency. (PMID 11372010)