S54R (p.Ser54Arg) variant of GCK (Hexokinase-4)
S54R (p.Ser54Arg) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- ExAC rs749097393
- gnomAD rs749097393
- cosmic curated COSV10606
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.71
- CADD 17.80
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available