D4N (p.Asp4Asn) variant of GCK (Hexokinase-4)
D4N (p.Asp4Asn) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- rs202091228
- ClinGen CA4239800
- ClinVar RCV001164411
- ClinVar RCV001164412
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.31
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in dbSNP:rs202091228)
- UniProt: Likely benign (in dbSNP:rs202091228)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations… (PMID 8325892)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)