L324P (p.Leu324Pro) variant of GCK (Hexokinase-4)
L324P (p.Leu324Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L324P (p.Leu324Pro) variant details
- p.Leu324Pro
- rs193922341
- ClinGen CA213874
- ClinVar RCV000029933
- ClinVar RCV003482232
- Pathogenic/Likely pathogenic
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.88
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)