L185R (p.Leu185Arg) variant of GCK (Hexokinase-4)
L185R (p.Leu185Arg) 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 0.96 / 1. The record also includes published literature and structural context.
L185R (p.Leu185Arg) variant details
- p.Leu185Arg
- rs1583599749
- ClinGen CA367401582
- ClinVar RCV000992054
- ClinVar RCV002346196
- Conflicting interpretations
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)