M41V (p.Met41Val) variant of GCK (Hexokinase-4)
M41V (p.Met41Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M41V (p.Met41Val) variant details
- p.Met41Val
- rs1583604693
- ClinGen CA367403472
- ClinVar RCV000992040
- ClinVar RCV002464351
- Conflicting interpretations
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.96
- AlphaMissense 0.94
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.40
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)