N391K (p.Asn391Lys) variant of GCK (Hexokinase-4)
N391K (p.Asn391Lys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele in the context of Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N391K (p.Asn391Lys) variant details
- p.Asn391Lys
- rs1554334579
- ClinGen CA367398633
- ClinVar RCV000502737
- ClinVar RCV002463691
- Likely pathogenic/Likely risk allele
- Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.66
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Likely pathogenic/Likely risk allele (Maturity-onset diabetes of the young type 2; Maturity-onset diab)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)