L45P (p.Leu45Pro) variant of GCK (Hexokinase-4)
L45P (p.Leu45Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Maturity-onset diabetes of the young; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- rs1131691598
- ClinGen CA367403437
- ClinVar RCV000493595
- ClinVar RCV002465692
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.99
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young; not specifie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)