R397H (p.Arg397His) variant of GCK (Hexokinase-4)
R397H (p.Arg397His) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. 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.
R397H (p.Arg397His) variant details
- p.Arg397His
- rs193929375
- ClinGen CA367398533
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99789
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)