L25R (p.Leu25Arg) variant of GCK (Hexokinase-4)
L25R (p.Leu25Arg) 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; Maturity-onset diabetes of t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- rs193922325
- ClinGen CA213838
- ClinVar RCV000029913
- ClinVar RCV002464075
- Conflicting interpretations
- Maturity-onset diabetes of the young; not provided; Maturity-onset diabetes of t
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.73
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not provided; Maturity-ons)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)