D42H (p.Asp42His) variant of GCK (Hexokinase-4)
D42H (p.Asp42His) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- rs1562719786
- ClinGen CA367403461
- ClinVar RCV000710053
- ClinVar RCV002464294
- Uncertain significance/Uncertain risk allele
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.66
- AlphaMissense 0.27
- MetaLR 0.90
- MetaSVM 1.01
- CADD 23.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance/Uncertain risk allele (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)