S453W (p.Ser453Trp) variant of GCK (Hexokinase-4)
S453W (p.Ser453Trp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
S453W (p.Ser453Trp) variant details
- p.Ser453Trp
- rs193922283
- ClinGen CA367396875
- ClinVar RCV003555319
- ClinVar RCV004786963
- Pathogenic/Likely pathogenic
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.76
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)