D124V (p.Asp124Val) variant of GCK (Hexokinase-4)
D124V (p.Asp124Val) 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 0.90 / 1. The record also includes published literature and structural context.
D124V (p.Asp124Val) variant details
- p.Asp124Val
- rs1554335612
- ClinGen CA367402205
- ClinVar RCV000625646
- ClinVar RCV001860464
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)