R43S (p.Arg43Ser) variant of GCK (Hexokinase-4)
R43S (p.Arg43Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- rs1486280029
- ClinGen CA367403453
- cosmic curated COSV61754
- ClinVar RCV000711760
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.55
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.18
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- 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: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)