L306R (p.Leu306Arg) variant of GCK (Hexokinase-4)
L306R (p.Leu306Arg) 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; Type 2 diabetes mellitus; Hyperinsu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L306R (p.Leu306Arg) variant details
- p.Leu306Arg
- rs193922337
- ClinGen CA367400030
- ClinVar RCV001903779
- ClinVar RCV005038479
- Uncertain significance
- Maturity-onset diabetes of the young type 2; Type 2 diabetes mellitus; Hyperinsu
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2; Type 2 diabetes mel)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)