E256D (p.Glu256Asp) variant of GCK (Hexokinase-4)
E256D (p.Glu256Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E256D (p.Glu256Asp) variant details
- p.Glu256Asp
- rs193922328
- ClinGen CA213848
- ClinVar RCV000029918
- ClinVar RCV002463610
- Conflicting interpretations
- Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.62
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; Maturity-onset diabetes of)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)