R36Q (p.Arg36Gln) variant of GCK (Hexokinase-4)
R36Q (p.Arg36Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R36Q (p.Arg36Gln) variant details
- p.Arg36Gln
- rs193922261
- ClinGen CA367403564
- cosmic curated COSV61754
- ClinVar RCV001249065
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.83
- AlphaMissense 0.16
- MetaLR 0.70
- MetaSVM 0.43
- CADD 23.00
- PolyPhen-2 0.80
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)