L122I (p.Leu122Ile) variant of GCK (Hexokinase-4)
L122I (p.Leu122Ile) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L122I (p.Leu122Ile) variant details
- p.Leu122Ile
- rs1554335616
- ClinGen CA367402232
- ClinVar RCV000504203
- ClinVar RCV002464017
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.60
- PolyPhen-2 0.98
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)