R46K (p.Arg46Lys) variant of GCK (Hexokinase-4)
R46K (p.Arg46Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- rs1064796993
- ClinGen CA367403428
- ClinVar RCV002465951
- gnomAD rs1064796993
- Benign
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.40
- CADD 9.97
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Maturity-onset diabetes of the young)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)