R63C (p.Arg63Cys) variant of GCK (Hexokinase-4)
R63C (p.Arg63Cys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of not provided; not specified; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- rs754479025
- ClinGen CA4239707
- NCI-TCGA Cosmic COSV6175
- cosmic curated COSV61754
- Uncertain significance/Uncertain risk allele
- not provided; not specified; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.52
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Uncertain significance/Uncertain risk allele (not provided; not specified; Maturity-onset diabetes of the youn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)