R303W (p.Arg303Trp) variant of GCK (Hexokinase-4)
R303W (p.Arg303Trp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R303W (p.Arg303Trp) variant details
- p.Arg303Trp
- rs193922336
- ClinGen CA213862
- cosmic curated COSV60786
- ClinVar RCV000029927
- Likely pathogenic
- Maturity-onset diabetes of the young; not provided; Maturity-onset diabetes of t
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young; not provided; Maturity-ons)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)