R85S (p.Arg85Ser) variant of GCK (Hexokinase-4)
R85S (p.Arg85Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain risk allele in the context of Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R85S (p.Arg85Ser) variant details
- p.Arg85Ser
- rs1554335758
- ClinGen CA367402958
- ClinVar RCV000625634
- ClinVar RCV002465739
- Uncertain risk allele
- Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain risk allele (Maturity-onset diabetes of the young)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)