R397C (p.Arg397Cys) variant of GCK (Hexokinase-4)
R397C (p.Arg397Cys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R397C (p.Arg397Cys) variant details
- p.Arg397Cys
- rs370464857
- ClinGen CA4239418
- ClinVar RCV003555325
- ClinVar RCV003883222
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.89
- AlphaMissense 0.34
- MetaLR 0.94
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)