R36W (p.Arg36Trp) variant of GCK (Hexokinase-4)
R36W (p.Arg36Trp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R36W (p.Arg36Trp) variant details
- p.Arg36Trp
- rs762263694
- ClinGen CA4239720
- NCI-TCGA Cosmic COSV6175
- cosmic curated COSV61752
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.91
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)