G68D (p.Gly68Asp) variant of GCK (Hexokinase-4)
G68D (p.Gly68Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- rs373418736
- ClinGen CA157919943
- ClinVar RCV001248984
- ClinVar RCV003481036
- Likely benign
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.98
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Monogenic diabetes)
- EBI: Benign (in MODY2)
- UniProt: Benign (in MODY2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization… (PMID 22611063)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)