L25Q (p.Leu25Gln) variant of GCK (Hexokinase-4)
L25Q (p.Leu25Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- rs193922325
- ClinGen CA16609255
- ClinVar RCV000445551
- Ensembl rs193922325
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.92
- AlphaMissense 0.73
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available