V62M (p.Val62Met) variant of GCK (Hexokinase-4)
V62M (p.Val62Met) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
V62M (p.Val62Met) variant details
- p.Val62Met
- rs1064793998
- ClinGen CA16618472
- ClinVar RCV000481874
- ClinVar RCV000754817
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)