K12R (p.Lys12Arg) variant of GCK (Hexokinase-4)
K12R (p.Lys12Arg) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- rs777958777
- ClinGen CA4239795
- ClinVar RCV001252995
- ExAC rs777958777
- Uncertain significance
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.63
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.16
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)