L306P (p.Leu306Pro) variant of GCK (Hexokinase-4)
L306P (p.Leu306Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L306P (p.Leu306Pro) variant details
- p.Leu306Pro
- rs193922337
- ClinGen CA213864
- ClinVar RCV000029928
- ClinVar RCV000992070
- Uncertain significance
- not provided
- 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 (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)