L315F (p.Leu315Phe) variant of GCK (Hexokinase-4)
L315F (p.Leu315Phe) 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 0.82 / 1. The record also includes published literature and structural context.
L315F (p.Leu315Phe) variant details
- p.Leu315Phe
- rs1583594350
- ClinGen CA367399944
- ClinVar RCV000992071
- ClinVar RCV002463769
- Conflicting interpretations
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.88
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.42
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance (in MODY2)
- UniProt: Uncertain significance (in MODY2)
- Structural context available
- Cited in: Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the… (PMID 16965331)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)